Linked Data
ClinVar Variation Id:
1362589
ClinVar RCV Id:
RCV001934493
dbSNP Id:
rs760904409
ExAC:
3:189713081 T / C
gnomAD v2:
3-189713081-T-C
gnomAD v4:
3-189995292-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189995292T>C , CM000665.2:g.189995292T>C | GRCh38 |
| NC_000003.11:g.189713081T>C , CM000665.1:g.189713081T>C | GRCh37 |
| NC_000003.10:g.191195775T>C | NCBI36 |
| NG_031929.1:g.132146A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319332.10:c.631A>G MANE Select | ENSP00000316881.5:p.Met211Val | |
| ENST00000319332.9:c.631A>G | ENSP00000316881.5:p.Met211Val | |
| ENST00000426003.1:c.88A>G | ENSP00000394326.1:p.Met30Val | |
| ENST00000427335.6:c.88A>G | ENSP00000408947.2:p.Met30Val | |
| ENST00000444866.5:c.88A>G | ENSP00000391374.1:p.Met30Val | |
| NM_001134418.1:c.88A>G | NP_001127890.1:p.Met30Val | |
| NM_018192.3:c.631A>G | NP_060662.2:p.Met211Val | |
| XM_011512955.1:c.88A>G | XP_011511257.1:p.Met30Val | |
| NM_018192.4:c.631A>G MANE Select | NP_060662.2:p.Met211Val | |
| NM_001134418.2:c.88A>G | NP_001127890.1:p.Met30Val |