Linked Data
ClinVar Variation Id:
93517
ClinVar RCV Id:
RCV000079431
RCV000397538
RCV000466034
RCV000368379
RCV000619307
RCV001572926
RCV003993795
dbSNP Id:
rs41277797
ExAC:
9:108363426 C / T
gnomAD v2:
9-108363426-C-T
gnomAD v3:
9-105601145-C-T
gnomAD v4:
9-105601145-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.105601145C>T , CM000671.2:g.105601145C>T | GRCh38 |
| NC_000009.11:g.108363426C>T , CM000671.1:g.108363426C>T | GRCh37 |
| NC_000009.10:g.107403247C>T | NCBI36 |
| NG_008754.1:g.48016C>T , LRG_434:g.48016C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357998.10:c.166C>T MANE Select | ENSP00000350687.6:p.Arg56Cys | |
| ENST00000374705.5:c.177C>T | ENSP00000363837.5:n.177C>T | |
| ENST00000602661.6:c.166C>T | ENSP00000473540.2:p.Arg56Cys | |
| ENST00000642177.1:c.166C>T | ENSP00000495864.1:p.Arg56Cys | |
| ENST00000642537.1:c.*28C>T | ENSP00000495945.1:n.*28C>T | |
| ENST00000642644.1:c.*289C>T | ENSP00000494674.1:n.*289C>T | |
| ENST00000642952.1:c.191C>T | ENSP00000493886.1:n.191C>T | |
| ENST00000645933.1:c.*164C>T | ENSP00000495852.1:n.*164C>T | |
| ENST00000674563.1:c.166C>T | ENSP00000502153.1:p.Arg56Cys | |
| ENST00000674633.1:c.166C>T | ENSP00000502164.1:p.Arg56Cys | |
| ENST00000675232.1:c.*217C>T | ENSP00000502043.1:n.*217C>T | |
| ENST00000675443.1:c.166C>T | ENSP00000502643.1:p.Arg56Cys | |
| ENST00000675668.1:c.166C>T | ENSP00000502113.1:p.Arg56Cys | |
| ENST00000675695.1:c.166C>T | ENSP00000502460.1:p.Arg56Cys | |
| ENST00000675736.1:c.166C>T | ENSP00000502809.1:p.Arg56Cys | |
| ENST00000676011.1:n.1215C>T | ||
| ENST00000676192.1:c.*86C>T | ENSP00000502158.1:n.*86C>T | |
| ENST00000676310.1:c.166C>T | ENSP00000501585.1:p.Arg56Cys | |
| ENST00000676371.1:c.237C>T | ENSP00000501556.1:p.Ser79= | |
| ENST00000223528.6:c.166C>T | ENSP00000223528.2:p.Arg56Cys | |
| ENST00000357998.9:c.166C>T | ENSP00000350687.5:p.Arg56Cys | |
| ENST00000374705.4:c.97C>T | ENSP00000363837.4:p.Arg33Cys | |
| ENST00000448551.6:c.166C>T | ENSP00000399140.2:p.Arg56Cys | |
| ENST00000602526.1:c.*86C>T | ENSP00000473347.1:n.*86C>T | |
| ENST00000602661.5:c.166C>T | ENSP00000473540.1:p.Arg56Cys | |
| NM_001079802.1:c.166C>T , LRG_434t1:c.166C>T | NP_001073270.1:p.Arg56Cys | |
| NM_001198963.1:c.166C>T | NP_001185892.1:p.Arg56Cys | |
| NM_006731.2:c.166C>T , LRG_434t2:c.166C>T | NP_006722.2:p.Arg56Cys | |
| XM_006717014.2:c.166C>T | XP_006717077.1:p.Arg56Cys | |
| XM_011518368.1:c.166C>T | XP_011516670.1:p.Arg56Cys | |
| XM_011518369.1:c.166C>T | XP_011516671.1:p.Arg56Cys | |
| XM_011518370.1:c.166C>T | XP_011516672.1:p.Arg56Cys | |
| XM_011518371.1:c.166C>T | XP_011516673.1:p.Arg56Cys | |
| XM_011518372.1:c.166C>T | XP_011516674.1:p.Arg56Cys | |
| XM_011518373.1:c.166C>T | XP_011516675.1:p.Arg56Cys | |
| XM_011518374.1:c.166C>T | XP_011516676.1:p.Arg56Cys | |
| XM_011518375.1:c.166C>T | XP_011516677.1:p.Arg56Cys | |
| XM_011518376.1:c.166C>T | XP_011516678.1:p.Arg56Cys | |
| XM_011518377.1:c.166C>T | XP_011516679.1:p.Arg56Cys | |
| XM_011518378.1:c.166C>T | XP_011516680.1:p.Arg56Cys | |
| XM_011518379.1:c.97C>T | XP_011516681.1:p.Arg33Cys | |
| XM_011518380.1:c.166C>T | XP_011516682.1:p.Arg56Cys | |
| XM_011518381.1:c.-21C>T | XP_011516683.1:n.-21C>T | |
| XM_011518382.1:c.-21C>T | XP_011516684.1:n.-21C>T | |
| XM_011518383.1:c.-21C>T | XP_011516685.1:n.-21C>T | |
| XM_011518384.1:c.-21C>T | XP_011516686.1:n.-21C>T | |
| XM_011518385.1:c.-21C>T | XP_011516687.1:n.-21C>T | |
| XM_011518386.1:c.166C>T | XP_011516688.1:p.Arg56Cys | |
| XM_011518387.1:c.166C>T | XP_011516689.1:p.Arg56Cys | |
| XM_011518388.1:c.166C>T | XP_011516690.1:p.Arg56Cys | |
| XM_011518389.1:c.166C>T | XP_011516691.1:p.Arg56Cys | |
| XM_011518391.1:c.166C>T | XP_011516693.1:p.Arg56Cys | |
| NM_001351496.1:c.166C>T | NP_001338425.1:p.Arg56Cys | |
| NM_001351497.1:c.97C>T | NP_001338426.1:p.Arg33Cys | |
| NM_001351498.1:c.166C>T | NP_001338427.1:p.Arg56Cys | |
| NM_001351499.1:c.-349C>T | NP_001338428.1:n.-349C>T | |
| NM_001351500.1:c.-349C>T | NP_001338429.1:n.-349C>T | |
| NM_001351501.1:c.-349C>T | NP_001338430.1:n.-349C>T | |
| NM_001351502.1:c.-349C>T | NP_001338431.1:n.-349C>T | |
| NR_147213.1:n.382C>T | ||
| NR_147214.1:n.290C>T | ||
| XM_011518368.2:c.166C>T | XP_011516670.1:p.Arg56Cys | |
| XM_011518369.2:c.166C>T | XP_011516671.1:p.Arg56Cys | |
| XM_011518370.2:c.166C>T | XP_011516672.1:p.Arg56Cys | |
| XM_011518371.2:c.166C>T | XP_011516673.1:p.Arg56Cys | |
| XM_011518373.2:c.166C>T | XP_011516675.1:p.Arg56Cys | |
| XM_011518374.2:c.166C>T | XP_011516676.1:p.Arg56Cys | |
| XM_011518375.2:c.166C>T | XP_011516677.1:p.Arg56Cys | |
| XM_011518376.2:c.166C>T | XP_011516678.1:p.Arg56Cys | |
| XM_011518378.2:c.166C>T | XP_011516680.1:p.Arg56Cys | |
| XM_011518379.2:c.97C>T | XP_011516681.1:p.Arg33Cys | |
| XM_011518381.3:c.-21C>T | XP_011516683.1:n.-21C>T | |
| XM_011518387.2:c.166C>T | XP_011516689.1:p.Arg56Cys | |
| XM_011518391.2:c.166C>T | XP_011516693.1:p.Arg56Cys | |
| XM_017014462.1:c.166C>T | XP_016869951.1:p.Arg56Cys | |
| XM_017014463.1:c.166C>T | XP_016869952.1:p.Arg56Cys | |
| XM_017014464.1:c.166C>T | XP_016869953.1:p.Arg56Cys | |
| XM_017014465.1:c.166C>T | XP_016869954.1:p.Arg56Cys | |
| XM_017014467.1:c.166C>T | XP_016869956.1:p.Arg56Cys | |
| XM_017014468.1:c.166C>T | XP_016869957.1:p.Arg56Cys | |
| XM_017014469.1:c.166C>T | XP_016869958.1:p.Arg56Cys | |
| XM_017014470.1:c.166C>T | XP_016869959.1:p.Arg56Cys | |
| XM_017014472.2:c.-21C>T | XP_016869961.1:n.-21C>T | |
| XM_017014473.2:c.-21C>T | XP_016869962.1:n.-21C>T | |
| XM_017014475.1:c.166C>T | XP_016869964.1:p.Arg56Cys | |
| XR_001746242.2:n.530C>T | ||
| XR_001746243.2:n.530C>T | ||
| XR_001746244.2:n.530C>T | ||
| XR_001746245.1:n.380C>T | ||
| XR_001746248.1:n.1355C>T | ||
| XR_002956770.1:n.380C>T | ||
| NM_001079802.2:c.166C>T MANE Select | NP_001073270.1:p.Arg56Cys | |
| NM_001198963.2:c.166C>T | NP_001185892.1:p.Arg56Cys | |
| NM_001351496.2:c.166C>T | NP_001338425.1:p.Arg56Cys | |
| NM_001351497.2:c.97C>T | NP_001338426.1:p.Arg33Cys | |
| NM_001351498.2:c.166C>T | NP_001338427.1:p.Arg56Cys | |
| NM_001351499.2:c.-349C>T | NP_001338428.1:n.-349C>T | |
| NM_001351500.2:c.-349C>T | NP_001338429.1:n.-349C>T | |
| NM_001351501.2:c.-349C>T | NP_001338430.1:n.-349C>T | |
| NM_001351502.2:c.-349C>T | NP_001338431.1:n.-349C>T | |
| NR_147213.2:n.381C>T | ||
| NR_147214.2:n.289C>T |