Linked Data
ClinVar Variation Id:
161686
ClinVar RCV Id:
RCV000149222
dbSNP Id:
rs193920949
COSMIC:
COSM1629393
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.71019061G>T , CM000676.2:g.71019061G>T | GRCh38 |
| NC_000014.8:g.71485778G>T , CM000676.1:g.71485778G>T | GRCh37 |
| NC_000014.7:g.70555531G>T | NCBI36 |
| NG_051070.1:g.116657G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304743.7:c.3049G>T MANE Select | ENSP00000304192.2:p.Ala1017Ser | |
| ENST00000304743.6:c.3049G>T | ENSP00000304192.2:p.Ala1017Ser | |
| ENST00000439984.7:c.2716G>T | ENSP00000396617.3:p.Ala906Ser | |
| ENST00000554691.5:c.225G>T | ||
| NM_001308160.1:c.2716G>T | NP_001295089.1:p.Ala906Ser | |
| NM_014982.2:c.3049G>T | NP_055797.2:p.Ala1017Ser | |
| XM_005267420.3:c.3049G>T | XP_005267477.1:p.Ala1017Ser | |
| XM_005267421.3:c.3046G>T | XP_005267478.1:p.Ala1016Ser | |
| XM_005267422.3:c.3034G>T | XP_005267479.1:p.Ala1012Ser | |
| XM_005267423.3:c.3034G>T | XP_005267480.1:p.Ala1012Ser | |
| XM_005267424.2:c.2938G>T | XP_005267481.2:p.Ala980Ser | |
| XM_005267425.3:c.2731G>T | XP_005267482.1:p.Ala911Ser | |
| XM_005267427.3:c.3049G>T | XP_005267484.1:p.Ala1017Ser | |
| XM_005267428.2:c.379G>T | XP_005267485.1:p.Ala127Ser | |
| XM_005267429.2:c.265G>T | XP_005267486.1:p.Ala89Ser | |
| XM_006720082.2:c.271G>T | XP_006720145.1:p.Ala91Ser | |
| XR_245672.3:n.3424G>T | ||
| XR_245673.3:n.3424G>T | ||
| XR_943402.1:n.3424G>T | ||
| XM_005267420.4:c.3049G>T | XP_005267477.1:p.Ala1017Ser | |
| XM_005267421.4:c.3046G>T | XP_005267478.1:p.Ala1016Ser | |
| XM_005267422.4:c.3034G>T | XP_005267479.1:p.Ala1012Ser | |
| XM_005267423.4:c.3034G>T | XP_005267480.1:p.Ala1012Ser | |
| XM_005267424.3:c.2938G>T | XP_005267481.2:p.Ala980Ser | |
| XM_005267425.4:c.2731G>T | XP_005267482.1:p.Ala911Ser | |
| XM_005267427.4:c.3049G>T | XP_005267484.1:p.Ala1017Ser | |
| XM_006720082.3:c.271G>T | XP_006720145.1:p.Ala91Ser | |
| XM_017021096.1:c.2731G>T | XP_016876585.1:p.Ala911Ser | |
| XM_017021097.1:c.265G>T | XP_016876586.1:p.Ala89Ser | |
| XM_024449513.1:c.379G>T | XP_024305281.1:p.Ala127Ser | |
| XR_245672.4:n.3457G>T | ||
| XR_245673.4:n.3457G>T | ||
| NM_001308160.2:c.2716G>T | NP_001295089.1:p.Ala906Ser | |
| NM_014982.3:c.3049G>T MANE Select | NP_055797.2:p.Ala1017Ser |