Linked Data
ClinVar Variation Id:
137383
dbSNP Id:
rs115730708
gnomAD v2:
9-108337220-T-C
gnomAD v3:
9-105574939-T-C
gnomAD v4:
9-105574939-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.105574939T>C , CM000671.2:g.105574939T>C | GRCh38 |
| NC_000009.11:g.108337220T>C , CM000671.1:g.108337220T>C | GRCh37 |
| NC_000009.10:g.107377041T>C | NCBI36 |
| NG_008754.1:g.21810T>C , LRG_434:g.21810T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357998.10:c.-88-6T>C MANE Select | ENSP00000350687.6:n.-88-6T>C | |
| ENST00000602661.6:c.-88-6T>C | ENSP00000473540.2:n.-88-6T>C | |
| ENST00000674563.1:c.-88-6T>C | ENSP00000502153.1:n.-88-6T>C | |
| ENST00000675232.1:c.-88-6T>C | ENSP00000502043.1:n.-88-6T>C | |
| ENST00000675443.1:c.-88-6T>C | ENSP00000502643.1:n.-88-6T>C | |
| ENST00000675668.1:c.-88-6T>C | ENSP00000502113.1:n.-88-6T>C | |
| ENST00000675695.1:c.-88-6T>C | ENSP00000502460.1:n.-88-6T>C | |
| ENST00000675736.1:c.-88-6T>C | ENSP00000502809.1:n.-88-6T>C | |
| ENST00000676192.1:c.-88-6T>C | ENSP00000502158.1:n.-88-6T>C | |
| ENST00000223528.6:c.-88-6T>C | ENSP00000223528.2:n.-88-6T>C | |
| ENST00000357998.9:c.-94T>C | ENSP00000350687.5:n.-94T>C | |
| ENST00000448551.6:c.-88-6T>C | ENSP00000399140.2:n.-88-6T>C | |
| ENST00000479846.1:n.244-6T>C | ||
| ENST00000490134.1:n.26-6T>C | ||
| ENST00000602661.5:c.-88-6T>C | ENSP00000473540.1:n.-88-6T>C | |
| NM_001079802.1:c.-88-6T>C , LRG_434t1:c.-88-6T>C | NP_001073270.1:n.-88-6T>C | |
| NM_001198963.1:c.-88-6T>C | NP_001185892.1:n.-88-6T>C | |
| NM_006731.2:c.-88-6T>C , LRG_434t2:c.-88-6T>C | NP_006722.2:n.-88-6T>C | |
| XM_006717014.2:c.-88-6T>C | XP_006717077.1:n.-88-6T>C | |
| XM_011518368.1:c.-88-6T>C | XP_011516670.1:n.-88-6T>C | |
| XM_011518369.1:c.-88-6T>C | XP_011516671.1:n.-88-6T>C | |
| XM_011518370.1:c.-88-6T>C | XP_011516672.1:n.-88-6T>C | |
| XM_011518371.1:c.-88-6T>C | XP_011516673.1:n.-88-6T>C | |
| XM_011518372.1:c.-88-6T>C | XP_011516674.1:n.-88-6T>C | |
| XM_011518373.1:c.-88-6T>C | XP_011516675.1:n.-88-6T>C | |
| XM_011518374.1:c.-88-6T>C | XP_011516676.1:n.-88-6T>C | |
| XM_011518375.1:c.-88-6T>C | XP_011516677.1:n.-88-6T>C | |
| XM_011518376.1:c.-88-6T>C | XP_011516678.1:n.-88-6T>C | |
| XM_011518377.1:c.-88-6T>C | XP_011516679.1:n.-88-6T>C | |
| XM_011518378.1:c.-88-6T>C | XP_011516680.1:n.-88-6T>C | |
| XM_011518380.1:c.-88-6T>C | XP_011516682.1:n.-88-6T>C | |
| XM_011518381.1:c.-345-6T>C | XP_011516683.1:n.-345-6T>C | |
| XM_011518386.1:c.-88-6T>C | XP_011516688.1:n.-88-6T>C | |
| XM_011518387.1:c.-88-6T>C | XP_011516689.1:n.-88-6T>C | |
| XM_011518388.1:c.-88-6T>C | XP_011516690.1:n.-88-6T>C | |
| XM_011518389.1:c.-88-6T>C | XP_011516691.1:n.-88-6T>C | |
| XM_011518391.1:c.-88-6T>C | XP_011516693.1:n.-88-6T>C | |
| NM_001351496.1:c.-88-6T>C | NP_001338425.1:n.-88-6T>C | |
| NM_001351497.1:c.-255-6T>C | NP_001338426.1:n.-255-6T>C | |
| NM_001351498.1:c.-88-6T>C | NP_001338427.1:n.-88-6T>C | |
| NM_001351499.1:c.-602-6T>C | NP_001338428.1:n.-602-6T>C | |
| NM_001351500.1:c.-602-6T>C | NP_001338429.1:n.-602-6T>C | |
| NM_001351501.1:c.-602-6T>C | NP_001338430.1:n.-602-6T>C | |
| NM_001351502.1:c.-602-6T>C | NP_001338431.1:n.-602-6T>C | |
| NR_147213.1:n.129-6T>C | ||
| NR_147214.1:n.37-6T>C | ||
| XM_011518368.2:c.-88-6T>C | XP_011516670.1:n.-88-6T>C | |
| XM_011518369.2:c.-88-6T>C | XP_011516671.1:n.-88-6T>C | |
| XM_011518370.2:c.-88-6T>C | XP_011516672.1:n.-88-6T>C | |
| XM_011518371.2:c.-88-6T>C | XP_011516673.1:n.-88-6T>C | |
| XM_011518373.2:c.-88-6T>C | XP_011516675.1:n.-88-6T>C | |
| XM_011518374.2:c.-88-6T>C | XP_011516676.1:n.-88-6T>C | |
| XM_011518375.2:c.-88-6T>C | XP_011516677.1:n.-88-6T>C | |
| XM_011518376.2:c.-88-6T>C | XP_011516678.1:n.-88-6T>C | |
| XM_011518378.2:c.-88-6T>C | XP_011516680.1:n.-88-6T>C | |
| XM_011518381.3:c.-345-6T>C | XP_011516683.1:n.-345-6T>C | |
| XM_011518387.2:c.-88-6T>C | XP_011516689.1:n.-88-6T>C | |
| XM_011518391.2:c.-88-6T>C | XP_011516693.1:n.-88-6T>C | |
| XM_017014462.1:c.-88-6T>C | XP_016869951.1:n.-88-6T>C | |
| XM_017014463.1:c.-88-6T>C | XP_016869952.1:n.-88-6T>C | |
| XM_017014464.1:c.-88-6T>C | XP_016869953.1:n.-88-6T>C | |
| XM_017014465.1:c.-88-6T>C | XP_016869954.1:n.-88-6T>C | |
| XM_017014467.1:c.-88-6T>C | XP_016869956.1:n.-88-6T>C | |
| XM_017014468.1:c.-88-6T>C | XP_016869957.1:n.-88-6T>C | |
| XM_017014469.1:c.-88-6T>C | XP_016869958.1:n.-88-6T>C | |
| XM_017014470.1:c.-88-6T>C | XP_016869959.1:n.-88-6T>C | |
| XM_017014472.2:c.-398-6T>C | XP_016869961.1:n.-398-6T>C | |
| XM_017014475.1:c.-88-6T>C | XP_016869964.1:n.-88-6T>C | |
| XR_001746242.2:n.277-6T>C | ||
| XR_001746243.2:n.277-6T>C | ||
| XR_001746244.2:n.277-6T>C | ||
| XR_001746245.1:n.127-6T>C | ||
| XR_001746248.1:n.1102-6T>C | ||
| XR_002956770.1:n.127-6T>C | ||
| NM_001079802.2:c.-88-6T>C MANE Select | NP_001073270.1:n.-88-6T>C | |
| NM_001198963.2:c.-88-6T>C | NP_001185892.1:n.-88-6T>C | |
| NM_001351496.2:c.-88-6T>C | NP_001338425.1:n.-88-6T>C | |
| NM_001351497.2:c.-255-6T>C | NP_001338426.1:n.-255-6T>C | |
| NM_001351498.2:c.-88-6T>C | NP_001338427.1:n.-88-6T>C | |
| NM_001351499.2:c.-602-6T>C | NP_001338428.1:n.-602-6T>C | |
| NM_001351500.2:c.-602-6T>C | NP_001338429.1:n.-602-6T>C | |
| NM_001351501.2:c.-602-6T>C | NP_001338430.1:n.-602-6T>C | |
| NM_001351502.2:c.-602-6T>C | NP_001338431.1:n.-602-6T>C | |
| NR_147213.2:n.128-6T>C | ||
| NR_147214.2:n.36-6T>C |