Linked Data
ClinVar Variation Id:
3209
ClinVar RCV Id:
RCV000003364
dbSNP Id:
rs119463993
PubMed:
PMID:17036286
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.105619962A>C , CM000671.2:g.105619962A>C | GRCh38 |
| NC_000009.11:g.108382243A>C , CM000671.1:g.108382243A>C | GRCh37 |
| NC_000009.10:g.107422064A>C | NCBI36 |
| NG_008754.1:g.66833A>C , LRG_434:g.66833A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357998.10:c.1073A>C MANE Select | ENSP00000350687.6:p.Gln358Pro | |
| ENST00000602661.6:c.*681A>C | ENSP00000473540.2:n.*681A>C | |
| ENST00000642177.1:c.1073A>C | ENSP00000495864.1:p.Gln358Pro | |
| ENST00000642537.1:c.*935A>C | ENSP00000495945.1:n.*935A>C | |
| ENST00000642644.1:c.*1196A>C | ENSP00000494674.1:n.*1196A>C | |
| ENST00000642952.1:c.1126A>C | ENSP00000493886.1:n.1126A>C | |
| ENST00000645933.1:c.*1099A>C | ENSP00000495852.1:n.*1099A>C | |
| ENST00000674563.1:c.1073A>C | ENSP00000502153.1:p.Gln358Pro | |
| ENST00000674633.1:c.1073A>C | ENSP00000502164.1:p.Gln358Pro | |
| ENST00000675668.1:c.1073A>C | ENSP00000502113.1:p.Gln358Pro | |
| ENST00000675695.1:c.809A>C | ENSP00000502460.1:p.Gln270Pro | |
| ENST00000675736.1:c.*681A>C | ENSP00000502809.1:n.*681A>C | |
| ENST00000676011.1:n.2265A>C | ||
| ENST00000676310.1:c.1073A>C | ENSP00000501585.1:p.Gln358Pro | |
| ENST00000676371.1:c.*880A>C | ENSP00000501556.1:n.*880A>C | |
| ENST00000223528.6:c.1073A>C | ENSP00000223528.2:p.Gln358Pro | |
| ENST00000357998.9:c.1073A>C | ENSP00000350687.5:p.Gln358Pro | |
| ENST00000448551.6:c.1073A>C | ENSP00000399140.2:p.Gln358Pro | |
| ENST00000457847.1:c.163A>C | ||
| ENST00000602526.1:c.*1111A>C | ENSP00000473347.1:n.*1111A>C | |
| ENST00000602661.5:c.1073A>C | ENSP00000473540.1:p.Gln358Pro | |
| NM_001079802.1:c.1073A>C , LRG_434t1:c.1073A>C | NP_001073270.1:p.Gln358Pro | |
| NM_001198963.1:c.1073A>C | NP_001185892.1:p.Gln358Pro | |
| NM_006731.2:c.1073A>C , LRG_434t2:c.1073A>C | NP_006722.2:p.Gln358Pro | |
| XM_006717014.2:c.780+12011A>C | XP_006717077.1:n.780+12011A>C | |
| XM_011518368.1:c.1073A>C | XP_011516670.1:p.Gln358Pro | |
| XM_011518369.1:c.1073A>C | XP_011516671.1:p.Gln358Pro | |
| XM_011518370.1:c.1073A>C | XP_011516672.1:p.Gln358Pro | |
| XM_011518371.1:c.1073A>C | XP_011516673.1:p.Gln358Pro | |
| XM_011518372.1:c.1073A>C | XP_011516674.1:p.Gln358Pro | |
| XM_011518373.1:c.1073A>C | XP_011516675.1:p.Gln358Pro | |
| XM_011518374.1:c.1073A>C | XP_011516676.1:p.Gln358Pro | |
| XM_011518375.1:c.1073A>C | XP_011516677.1:p.Gln358Pro | |
| XM_011518376.1:c.1073A>C | XP_011516678.1:p.Gln358Pro | |
| XM_011518377.1:c.1070A>C | XP_011516679.1:p.Gln357Pro | |
| XM_011518378.1:c.1073A>C | XP_011516680.1:p.Gln358Pro | |
| XM_011518379.1:c.1004A>C | XP_011516681.1:p.Gln335Pro | |
| XM_011518380.1:c.1073A>C | XP_011516682.1:p.Gln358Pro | |
| XM_011518381.1:c.887A>C | XP_011516683.1:p.Gln296Pro | |
| XM_011518382.1:c.887A>C | XP_011516684.1:p.Gln296Pro | |
| XM_011518383.1:c.887A>C | XP_011516685.1:p.Gln296Pro | |
| XM_011518384.1:c.887A>C | XP_011516686.1:p.Gln296Pro | |
| XM_011518385.1:c.887A>C | XP_011516687.1:p.Gln296Pro | |
| XM_011518386.1:c.1073A>C | XP_011516688.1:p.Gln358Pro | |
| XM_011518387.1:c.809A>C | XP_011516689.1:p.Gln270Pro | |
| XM_011518388.1:c.1073A>C | XP_011516690.1:p.Gln358Pro | |
| XM_011518389.1:c.1101A>C | XP_011516691.1:p.Pro367= | |
| XM_011518390.1:c.677A>C | XP_011516692.1:p.Gln226Pro | |
| XM_011518391.1:c.780+12011A>C | XP_011516693.1:n.780+12011A>C | |
| NM_001351496.1:c.1073A>C | NP_001338425.1:p.Gln358Pro | |
| NM_001351497.1:c.1004A>C | NP_001338426.1:p.Gln335Pro | |
| NM_001351498.1:c.1073A>C | NP_001338427.1:p.Gln358Pro | |
| NM_001351499.1:c.677A>C | NP_001338428.1:p.Gln226Pro | |
| NM_001351500.1:c.677A>C | NP_001338429.1:p.Gln226Pro | |
| NM_001351501.1:c.677A>C | NP_001338430.1:p.Gln226Pro | |
| NM_001351502.1:c.677A>C | NP_001338431.1:p.Gln226Pro | |
| NR_147213.1:n.1025A>C | ||
| NR_147214.1:n.1197A>C | ||
| XM_011518368.2:c.1073A>C | XP_011516670.1:p.Gln358Pro | |
| XM_011518369.2:c.1073A>C | XP_011516671.1:p.Gln358Pro | |
| XM_011518370.2:c.1073A>C | XP_011516672.1:p.Gln358Pro | |
| XM_011518371.2:c.1073A>C | XP_011516673.1:p.Gln358Pro | |
| XM_011518373.2:c.1073A>C | XP_011516675.1:p.Gln358Pro | |
| XM_011518374.2:c.1073A>C | XP_011516676.1:p.Gln358Pro | |
| XM_011518375.2:c.1073A>C | XP_011516677.1:p.Gln358Pro | |
| XM_011518376.2:c.1073A>C | XP_011516678.1:p.Gln358Pro | |
| XM_011518378.2:c.1073A>C | XP_011516680.1:p.Gln358Pro | |
| XM_011518379.2:c.1004A>C | XP_011516681.1:p.Gln335Pro | |
| XM_011518381.3:c.887A>C | XP_011516683.1:p.Gln296Pro | |
| XM_011518387.2:c.809A>C | XP_011516689.1:p.Gln270Pro | |
| XM_011518390.2:c.677A>C | XP_011516692.1:p.Gln226Pro | |
| XM_011518391.2:c.780+12011A>C | XP_011516693.1:n.780+12011A>C | |
| XM_017014462.1:c.1073A>C | XP_016869951.1:p.Gln358Pro | |
| XM_017014463.1:c.1073A>C | XP_016869952.1:p.Gln358Pro | |
| XM_017014464.1:c.1073A>C | XP_016869953.1:p.Gln358Pro | |
| XM_017014465.1:c.1073A>C | XP_016869954.1:p.Gln358Pro | |
| XM_017014467.1:c.1073A>C | XP_016869956.1:p.Gln358Pro | |
| XM_017014468.1:c.1073A>C | XP_016869957.1:p.Gln358Pro | |
| XM_017014469.1:c.1073A>C | XP_016869958.1:p.Gln358Pro | |
| XM_017014470.1:c.1073A>C | XP_016869959.1:p.Gln358Pro | |
| XM_017014472.2:c.887A>C | XP_016869961.1:p.Gln296Pro | |
| XM_017014473.2:c.887A>C | XP_016869962.1:p.Gln296Pro | |
| XM_017014475.1:c.809A>C | XP_016869964.1:p.Gln270Pro | |
| XR_001746242.2:n.1437A>C | ||
| XR_001746243.2:n.1437A>C | ||
| XR_001746244.2:n.1437A>C | ||
| XR_001746245.1:n.1287A>C | ||
| XR_001746248.1:n.2380A>C | ||
| XR_002956770.1:n.1315A>C | ||
| NM_001079802.2:c.1073A>C MANE Select | NP_001073270.1:p.Gln358Pro | |
| NM_001198963.2:c.1073A>C | NP_001185892.1:p.Gln358Pro | |
| NM_001351496.2:c.1073A>C | NP_001338425.1:p.Gln358Pro | |
| NM_001351497.2:c.1004A>C | NP_001338426.1:p.Gln335Pro | |
| NM_001351498.2:c.1073A>C | NP_001338427.1:p.Gln358Pro | |
| NM_001351499.2:c.677A>C | NP_001338428.1:p.Gln226Pro | |
| NM_001351500.2:c.677A>C | NP_001338429.1:p.Gln226Pro | |
| NM_001351501.2:c.677A>C | NP_001338430.1:p.Gln226Pro | |
| NM_001351502.2:c.677A>C | NP_001338431.1:p.Gln226Pro | |
| NR_147213.2:n.1024A>C | ||
| NR_147214.2:n.1196A>C |