Linked Data
ClinVar Variation Id:
680
ClinVar RCV Id:
RCV000000715
dbSNP Id:
rs121918160
ExAC:
2:128186071 C / T
gnomAD v2:
2-128186071-C-T
gnomAD v4:
2-127428495-C-T
PubMed:
PMID:11380450
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428495C>T , CM000664.2:g.127428495C>T | GRCh38 |
| NC_000002.11:g.128186071C>T , CM000664.1:g.128186071C>T | GRCh37 |
| NC_000002.10:g.127902541C>T | NCBI36 |
| NG_016323.1:g.15076C>T , LRG_599:g.15076C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.935C>T MANE Select | ENSP00000234071.4:p.Ser312Leu | |
| ENST00000234071.7:c.935C>T | ENSP00000234071.3:p.Ser312Leu | |
| ENST00000402125.2:c.259C>T | ||
| ENST00000409048.1:c.1037C>T | ENSP00000386679.1:p.Ser346Leu | |
| NM_000312.3:c.935C>T , LRG_599t1:c.935C>T | NP_000303.1:p.Ser312Leu | |
| XM_005263715.3:c.1118C>T | XP_005263772.1:p.Ser373Leu | |
| XM_005263716.3:c.1100C>T | XP_005263773.1:p.Ser367Leu | |
| XM_005263717.3:c.998C>T | XP_005263774.1:p.Ser333Leu | |
| XR_923313.1:n.1332-231G>A | ||
| XM_005263717.4:c.998C>T | XP_005263774.1:p.Ser333Leu | |
| XM_017004505.1:c.1178C>T | XP_016859994.1:p.Ser393Leu | |
| XM_024453002.1:c.1280C>T | XP_024308770.1:p.Ser427Leu | |
| XM_024453003.1:c.1220C>T | XP_024308771.1:p.Ser407Leu | |
| XM_024453004.1:c.1118C>T | XP_024308772.1:p.Ser373Leu | |
| XM_024453005.1:c.1100C>T | XP_024308773.1:p.Ser367Leu | |
| XM_024453006.1:c.1037C>T | XP_024308774.1:p.Ser346Leu | |
| XR_001739705.1:n.3607-231G>A | ||
| XR_923313.2:n.4043-231G>A | ||
| NM_000312.4:c.935C>T MANE Select | NP_000303.1:p.Ser312Leu | |
| NM_001375602.1:c.1118C>T | NP_001362531.1:p.Ser373Leu | |
| NM_001375603.1:c.1100C>T | NP_001362532.1:p.Ser367Leu | |
| NM_001375604.1:c.998C>T | NP_001362533.1:p.Ser333Leu | |
| NM_001375605.1:c.1037C>T | NP_001362534.1:p.Ser346Leu | |
| NM_001375606.1:c.1103C>T | NP_001362535.1:p.Ser368Leu | |
| NM_001375607.1:c.1121C>T | NP_001362536.1:p.Ser374Leu | |
| NM_001375608.1:c.878C>T | NP_001362537.1:p.Ser293Leu | |
| NM_001375609.1:c.911C>T | NP_001362538.1:p.Ser304Leu | |
| NM_001375610.1:c.929C>T | NP_001362539.1:p.Ser310Leu | |
| NM_001375611.1:c.935C>T | NP_001362540.1:p.Ser312Leu | |
| NM_001375613.1:c.935C>T | NP_001362542.1:p.Ser312Leu |