Linked Data
dbSNP Id:
rs2173763
gnomAD v2:
3-122329160-A-G
gnomAD v3:
3-122610313-A-G
gnomAD v4:
3-122610313-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122610313A>G , CM000665.2:g.122610313A>G | GRCh38 |
| NC_000003.11:g.122329160A>G , CM000665.1:g.122329160A>G | GRCh37 |
| NC_000003.10:g.123811850A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000464300.7:c.307-181A>G MANE Select | ENSP00000417214.2:n.307-181A>G | |
| ENST00000464300.6:c.307-181A>G | ENSP00000417214.2:n.307-181A>G | |
| ENST00000465304.5:n.283-181A>G | ||
| ENST00000483793.5:c.307-181A>G | ENSP00000417785.1:n.307-181A>G | |
| NM_001113523.1:c.307-181A>G | NP_001106995.1:n.307-181A>G | |
| NM_001113523.2:c.307-181A>G | NP_001106995.1:n.307-181A>G | |
| NM_001308320.1:c.307-181A>G | NP_001295249.1:n.307-181A>G | |
| XM_005247159.2:c.307-181A>G | XP_005247216.1:n.307-181A>G | |
| XM_005247160.2:c.307-181A>G | XP_005247217.1:n.307-181A>G | |
| XM_011512475.1:c.187-181A>G | XP_011510777.1:n.187-181A>G | |
| XM_011512476.1:c.307-181A>G | XP_011510778.1:n.307-181A>G | |
| XM_011512477.1:c.307-181A>G | XP_011510779.1:n.307-181A>G | |
| XM_011512478.1:c.-488-181A>G | XP_011510780.1:n.-488-181A>G | |
| XM_011512480.1:c.307-181A>G | XP_011510782.1:n.307-181A>G | |
| XM_005247159.4:c.307-181A>G | XP_005247216.1:n.307-181A>G | |
| XM_005247160.4:c.307-181A>G | XP_005247217.1:n.307-181A>G | |
| XM_011512475.3:c.187-181A>G | XP_011510777.1:n.187-181A>G | |
| XM_011512476.3:c.307-181A>G | XP_011510778.1:n.307-181A>G | |
| XM_011512477.3:c.307-181A>G | XP_011510779.1:n.307-181A>G | |
| XM_011512478.3:c.-488-181A>G | XP_011510780.1:n.-488-181A>G | |
| XM_011512480.3:c.307-181A>G | XP_011510782.1:n.307-181A>G | |
| XM_017005791.2:c.307-181A>G | XP_016861280.1:n.307-181A>G | |
| NM_001113523.3:c.307-181A>G MANE Select | NP_001106995.1:n.307-181A>G | |
| NM_001308320.2:c.307-181A>G | NP_001295249.1:n.307-181A>G |