Linked Data
ClinVar Variation Id:
7033
dbSNP Id:
rs137853062
gnomAD v2:
5-7891518-C-T
gnomAD v3:
5-7891405-C-T
gnomAD v4:
5-7891405-C-T
COSMIC:
COSM3429677
PubMed:
PMID:15714522
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7891405C>T , CM000667.2:g.7891405C>T | GRCh38 |
| NC_000005.9:g.7891518C>T , CM000667.1:g.7891518C>T | GRCh37 |
| NC_000005.8:g.7944518C>T | NCBI36 |
| NG_008856.1:g.27302C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440940.7:c.1361C>T MANE Select | ENSP00000402510.2:p.Ser454Leu | |
| ENST00000264668.6:c.1442C>T | ENSP00000264668.2:p.Ser481Leu | |
| ENST00000440940.6:c.1361C>T | ENSP00000402510.2:p.Ser454Leu | |
| ENST00000507202.1:n.37C>T | ||
| ENST00000507414.1:n.101C>T | ||
| ENST00000510525.5:c.1297C>T | ||
| ENST00000511461.5:c.1274C>T | ||
| ENST00000512311.5:n.340C>T | ||
| ENST00000513439.5:c.*1068C>T | ENSP00000426710.1:n.*1068C>T | |
| NM_002454.2:c.1361C>T | NP_002445.2:p.Ser454Leu | |
| NM_024010.2:c.1442C>T | NP_076915.2:p.Ser481Leu | |
| XM_011514043.1:c.1442C>T | XP_011512345.1:p.Ser481Leu | |
| XM_011514044.1:c.1361C>T | XP_011512346.1:p.Ser454Leu | |
| XR_241702.1:n.1375C>T | ||
| XR_241703.1:n.1368C>T | ||
| XR_925614.1:n.1487C>T | ||
| XR_925615.1:n.1639C>T | ||
| NM_001364440.1:c.1361C>T | NP_001351369.1:p.Ser454Leu | |
| NM_001364441.1:c.1361C>T | NP_001351370.1:p.Ser454Leu | |
| NM_001364442.1:c.1361C>T | NP_001351371.1:p.Ser454Leu | |
| NM_024010.3:c.1361C>T | NP_076915.3:p.Ser454Leu | |
| NR_134480.1:n.1484C>T | ||
| NR_134481.1:n.1409C>T | ||
| NR_134482.1:n.1344C>T | ||
| NR_157168.1:n.1414C>T | ||
| NR_157169.1:n.1274C>T | ||
| NR_157170.1:n.1440C>T | ||
| NR_157171.1:n.1297C>T | ||
| NR_157172.1:n.1211C>T | ||
| NR_157173.1:n.1451C>T | ||
| NR_157174.1:n.1452C>T | ||
| NR_157175.1:n.1606C>T | ||
| NR_157176.1:n.1769C>T | ||
| NR_157177.1:n.1449C>T | ||
| NR_157178.1:n.1477C>T | ||
| XM_024446063.1:c.1406C>T | XP_024301831.1:p.Ser469Leu | |
| XM_024446064.1:c.1361C>T | XP_024301832.1:p.Ser454Leu | |
| XR_001742071.1:n.1639C>T | ||
| XR_001742072.1:n.1616C>T | ||
| XR_001742074.1:n.1375C>T | ||
| XR_001742075.1:n.1527C>T | ||
| XR_001742076.1:n.1604C>T | ||
| XR_001742077.1:n.1627C>T | ||
| NM_001364440.2:c.1361C>T | NP_001351369.1:p.Ser454Leu | |
| NM_001364441.2:c.1361C>T | NP_001351370.1:p.Ser454Leu | |
| NM_001364442.2:c.1361C>T | NP_001351371.1:p.Ser454Leu | |
| NM_002454.3:c.1361C>T MANE Select | NP_002445.2:p.Ser454Leu | |
| NM_024010.4:c.1361C>T | NP_076915.3:p.Ser454Leu | |
| NR_134480.2:n.1440C>T | ||
| NR_134481.2:n.1365C>T | ||
| NR_134482.2:n.1300C>T | ||
| NR_157168.2:n.1414C>T | ||
| NR_157169.2:n.1274C>T | ||
| NR_157170.2:n.1440C>T | ||
| NR_157171.2:n.1297C>T | ||
| NR_157172.2:n.1211C>T | ||
| NR_157173.2:n.1451C>T | ||
| NR_157174.2:n.1452C>T | ||
| NR_157175.2:n.1606C>T | ||
| NR_157176.2:n.1769C>T | ||
| NR_157177.2:n.1449C>T | ||
| NR_157178.2:n.1477C>T |