Linked Data
ClinVar Variation Id:
2801256
ClinVar RCV Id:
RCV003674017
dbSNP Id:
rs1043796672
gnomAD v4:
9-91757516-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91757516A>C , CM000671.2:g.91757516A>C | GRCh38 |
| NC_000009.11:g.94519798A>C , CM000671.1:g.94519798A>C | GRCh37 |
| NC_000009.10:g.93559619A>C | NCBI36 |
| NG_008089.1:g.197647T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.219T>G MANE Select | ENSP00000364860.3:p.Ile73Met | |
| ENST00000375708.3:c.219T>G | ENSP00000364860.3:p.Ile73Met | |
| ENST00000375715.5:c.-202T>G | ENSP00000364867.1:n.-202T>G | |
| ENST00000495386.5:n.482T>G | ||
| ENST00000546883.1:n.421T>G | ||
| ENST00000548585.2:n.85T>G | ||
| ENST00000550066.5:n.687T>G | ||
| NM_004560.3:c.219T>G | NP_004551.2:p.Ile73Met | |
| XM_005252008.3:c.-202T>G | XP_005252065.1:n.-202T>G | |
| XM_006717121.2:c.-202T>G | XP_006717184.1:n.-202T>G | |
| XM_011518721.1:c.-202T>G | XP_011517023.1:n.-202T>G | |
| NM_001318204.1:c.219T>G | NP_001305133.1:p.Ile73Met | |
| XM_005252008.4:c.-202T>G | XP_005252065.1:n.-202T>G | |
| XM_006717121.3:c.-202T>G | XP_006717184.1:n.-202T>G | |
| XM_017014762.1:c.210T>G | XP_016870251.1:p.Ile70Met | |
| XM_017014763.1:c.-202T>G | XP_016870252.1:n.-202T>G | |
| XR_001746315.1:n.462T>G | ||
| NM_004560.4:c.219T>G MANE Select | NP_004551.2:p.Ile73Met | |
| NM_001318204.2:c.219T>G | NP_001305133.1:p.Ile73Met |