Linked Data
ClinVar Variation Id:
660
ClinVar RCV Id:
RCV000000695
dbSNP Id:
rs121918144
gnomAD v4:
2-127428462-C-T
PubMed:
PMID:1348046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428462C>T , CM000664.2:g.127428462C>T | GRCh38 |
| NC_000002.11:g.128186038C>T , CM000664.1:g.128186038C>T | GRCh37 |
| NC_000002.10:g.127902508C>T | NCBI36 |
| NG_016323.1:g.15043C>T , LRG_599:g.15043C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.902C>T MANE Select | ENSP00000234071.4:p.Ala301Val | |
| ENST00000234071.7:c.902C>T | ENSP00000234071.3:p.Ala301Val | |
| ENST00000402125.2:c.226C>T | ||
| ENST00000409048.1:c.1004C>T | ENSP00000386679.1:p.Ala335Val | |
| NM_000312.3:c.902C>T , LRG_599t1:c.902C>T | NP_000303.1:p.Ala301Val | |
| XM_005263715.3:c.1085C>T | XP_005263772.1:p.Ala362Val | |
| XM_005263716.3:c.1067C>T | XP_005263773.1:p.Ala356Val | |
| XM_005263717.3:c.965C>T | XP_005263774.1:p.Ala322Val | |
| XR_923313.1:n.1332-198G>A | ||
| XM_005263717.4:c.965C>T | XP_005263774.1:p.Ala322Val | |
| XM_017004505.1:c.1145C>T | XP_016859994.1:p.Ala382Val | |
| XM_024453002.1:c.1247C>T | XP_024308770.1:p.Ala416Val | |
| XM_024453003.1:c.1187C>T | XP_024308771.1:p.Ala396Val | |
| XM_024453004.1:c.1085C>T | XP_024308772.1:p.Ala362Val | |
| XM_024453005.1:c.1067C>T | XP_024308773.1:p.Ala356Val | |
| XM_024453006.1:c.1004C>T | XP_024308774.1:p.Ala335Val | |
| XR_001739705.1:n.3607-198G>A | ||
| XR_923313.2:n.4043-198G>A | ||
| NM_000312.4:c.902C>T MANE Select | NP_000303.1:p.Ala301Val | |
| NM_001375602.1:c.1085C>T | NP_001362531.1:p.Ala362Val | |
| NM_001375603.1:c.1067C>T | NP_001362532.1:p.Ala356Val | |
| NM_001375604.1:c.965C>T | NP_001362533.1:p.Ala322Val | |
| NM_001375605.1:c.1004C>T | NP_001362534.1:p.Ala335Val | |
| NM_001375606.1:c.1070C>T | NP_001362535.1:p.Ala357Val | |
| NM_001375607.1:c.1088C>T | NP_001362536.1:p.Ala363Val | |
| NM_001375608.1:c.845C>T | NP_001362537.1:p.Ala282Val | |
| NM_001375609.1:c.878C>T | NP_001362538.1:p.Ala293Val | |
| NM_001375610.1:c.896C>T | NP_001362539.1:p.Ala299Val | |
| NM_001375611.1:c.902C>T | NP_001362540.1:p.Ala301Val | |
| NM_001375613.1:c.902C>T | NP_001362542.1:p.Ala301Val |