Linked Data
dbSNP Id:
rs11960314
gnomAD v2:
5-170059227-G-A
gnomAD v3:
5-170632223-G-A
gnomAD v4:
5-170632223-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.170632223G>A , CM000667.2:g.170632223G>A | GRCh38 |
| NC_000005.9:g.170059227G>A , CM000667.1:g.170059227G>A | GRCh37 |
| NC_000005.8:g.169991805G>A | NCBI36 |
| NG_011538.1:g.283347G>A | |
| NG_011538.2:g.283347G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328939.9:c.62-86535G>A MANE Select | ENSP00000329686.4:n.62-86535G>A | |
| ENST00000328939.8:c.62-86535G>A | ENSP00000329686.4:n.62-86535G>A | |
| ENST00000377360.8:c.89-86535G>A | ENSP00000366577.4:n.89-86535G>A | |
| ENST00000390656.8:c.-164-37276G>A | ENSP00000375071.5:n.-164-37276G>A | |
| ENST00000411494.5:c.62-80631G>A | ENSP00000395323.1:n.62-80631G>A | |
| ENST00000434108.5:c.62-86535G>A | ENSP00000414886.1:n.62-86535G>A | |
| ENST00000520740.5:c.-185-37276G>A | ENSP00000431102.1:n.-185-37276G>A | |
| NM_001034837.2:c.62-80631G>A | NP_001030009.1:n.62-80631G>A | |
| NM_001034838.2:c.89-86535G>A | NP_001030010.1:n.89-86535G>A | |
| NM_001278339.1:c.62-86535G>A | NP_001265268.1:n.62-86535G>A | |
| NM_001278340.1:c.-185-37276G>A | NP_001265269.1:n.-185-37276G>A | |
| NM_014592.3:c.62-86535G>A | NP_055407.1:n.62-86535G>A | |
| XM_006714861.1:c.137-86535G>A | XP_006714924.1:n.137-86535G>A | |
| XM_011534539.1:c.242-86535G>A | XP_011532841.1:n.242-86535G>A | |
| XM_017009407.1:c.89-86535G>A | XP_016864896.1:n.89-86535G>A | |
| NM_001034837.3:c.62-80631G>A | NP_001030009.1:n.62-80631G>A | |
| NM_001034838.3:c.89-86535G>A | NP_001030010.1:n.89-86535G>A | |
| NM_001278339.2:c.62-86535G>A | NP_001265268.1:n.62-86535G>A | |
| NM_001278340.2:c.-185-37276G>A | NP_001265269.1:n.-185-37276G>A | |
| NM_014592.4:c.62-86535G>A MANE Select | NP_055407.1:n.62-86535G>A |