Linked Data
ClinVar Variation Id:
4993
ClinVar RCV Id:
RCV000005281
RCV000202464
RCV000202535
RCV000545248
RCV000728663
RCV001172890
RCV003992145
dbSNP Id:
rs121912633
ExAC:
12:110230201 C / T
gnomAD v2:
12-110230201-C-T
gnomAD v3:
12-109792396-C-T
gnomAD v4:
12-109792396-C-T
COSMIC:
COSM96812
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109792396C>T , CM000674.2:g.109792396C>T | GRCh38 |
| NC_000012.11:g.110230201C>T , CM000674.1:g.110230201C>T | GRCh37 |
| NC_000012.10:g.108714584C>T | NCBI36 |
| NG_017090.1:g.46012G>A , LRG_372:g.46012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.1858G>A MANE Select | ENSP00000261740.2:p.Val620Ile | |
| ENST00000418703.7:c.1858G>A | ENSP00000406191.2:p.Val620Ile | |
| ENST00000674908.1:c.*945G>A | ENSP00000502012.1:n.*945G>A | |
| ENST00000675533.1:n.1889G>A | ||
| ENST00000675670.1:c.1858G>A | ENSP00000502135.1:p.Val620Ile | |
| ENST00000676376.1:n.1889G>A | ||
| ENST00000261740.6:c.1858G>A | ENSP00000261740.2:p.Val620Ile | |
| ENST00000418703.6:c.1858G>A | ENSP00000406191.2:p.Val620Ile | |
| ENST00000536838.1:c.1756G>A | ENSP00000444336.1:p.Val586Ile | |
| ENST00000537083.5:c.1678G>A | ENSP00000442738.1:p.Val560Ile | |
| ENST00000538125.5:c.*241G>A | ENSP00000437449.1:n.*241G>A | |
| ENST00000541794.5:c.1717G>A | ENSP00000442167.1:p.Val573Ile | |
| ENST00000544971.5:c.1537G>A | ENSP00000443611.1:p.Val513Ile | |
| NM_001177428.1:c.1717G>A | NP_001170899.1:p.Val573Ile | |
| NM_001177431.1:c.1756G>A | NP_001170902.1:p.Val586Ile | |
| NM_001177433.1:c.1537G>A | NP_001170904.1:p.Val513Ile | |
| NM_021625.4:c.1858G>A , LRG_372t1:c.1858G>A | NP_067638.3:p.Val620Ile | |
| NM_147204.2:c.1678G>A | NP_671737.1:p.Val560Ile | |
| XM_005253918.1:c.1858G>A | XP_005253975.1:p.Val620Ile | |
| XM_011538630.1:c.1858G>A | XP_011536932.1:p.Val620Ile | |
| XM_011538631.1:c.1717G>A | XP_011536933.1:p.Val573Ile | |
| XM_011538632.1:c.1678G>A | XP_011536934.1:p.Val560Ile | |
| XM_011538633.1:c.1537G>A | XP_011536935.1:p.Val513Ile | |
| XM_011538634.1:c.1858G>A | XP_011536936.1:p.Val620Ile | |
| XM_011538635.1:c.2011G>A | XP_011536937.1:p.Val671Ile | |
| XM_011538630.2:c.2011G>A | XP_011536932.2:p.Val671Ile | |
| XM_011538631.2:c.1870G>A | XP_011536933.2:p.Val624Ile | |
| XM_011538632.2:c.1831G>A | XP_011536934.2:p.Val611Ile | |
| XM_011538633.2:c.1690G>A | XP_011536935.2:p.Val564Ile | |
| XM_011538634.2:c.2011G>A | XP_011536936.2:p.Val671Ile | |
| XM_011538635.2:c.2011G>A | XP_011536937.1:p.Val671Ile | |
| XM_017019774.1:c.1858G>A | XP_016875263.1:p.Val620Ile | |
| NM_021625.5:c.1858G>A MANE Select | NP_067638.3:p.Val620Ile |