Linked Data
dbSNP Id:
rs16946160
gnomAD v2:
13-92203813-G-A
gnomAD v3:
13-91551559-G-A
gnomAD v4:
13-91551559-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.91551559G>A , CM000675.2:g.91551559G>A | GRCh38 |
| NC_000013.10:g.92203813G>A , CM000675.1:g.92203813G>A | GRCh37 |
| NC_000013.9:g.91001814G>A | NCBI36 |
| NG_009370.1:g.157879G>A | |
| NG_009370.2:g.157879G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377067.9:c.325+102637G>A MANE Select | ENSP00000366267.3:n.325+102637G>A | |
| ENST00000377067.8:c.325+102637G>A | ENSP00000366267.3:n.325+102637G>A | |
| NM_004466.5:c.325+102637G>A | NP_004457.1:n.325+102637G>A | |
| XM_011521054.1:c.325+102637G>A | XP_011519356.1:n.325+102637G>A | |
| XM_011521055.1:c.325+102637G>A | XP_011519357.1:n.325+102637G>A | |
| XM_011521056.1:c.325+102637G>A | XP_011519358.1:n.325+102637G>A | |
| XM_011521057.1:c.325+102637G>A | XP_011519359.1:n.325+102637G>A | |
| XM_011521058.1:c.325+102637G>A | XP_011519360.1:n.325+102637G>A | |
| XM_011521059.1:c.325+102637G>A | XP_011519361.1:n.325+102637G>A | |
| XM_011521060.1:c.325+102637G>A | XP_011519362.1:n.325+102637G>A | |
| XM_011521054.3:c.325+102637G>A | XP_011519356.1:n.325+102637G>A | |
| XM_011521055.3:c.325+102637G>A | XP_011519357.1:n.325+102637G>A | |
| XM_011521056.3:c.325+102637G>A | XP_011519358.1:n.325+102637G>A | |
| XM_011521057.3:c.325+102637G>A | XP_011519359.1:n.325+102637G>A | |
| XM_011521058.2:c.325+102637G>A | XP_011519360.1:n.325+102637G>A | |
| XM_011521059.2:c.325+102637G>A | XP_011519361.1:n.325+102637G>A | |
| XM_011521060.2:c.325+102637G>A | XP_011519362.1:n.325+102637G>A | |
| XM_017020435.2:c.325+102637G>A | XP_016875924.1:n.325+102637G>A | |
| XM_017020436.2:c.325+102637G>A | XP_016875925.1:n.325+102637G>A | |
| XM_017020437.1:c.325+102637G>A | XP_016875926.1:n.325+102637G>A | |
| NM_004466.6:c.325+102637G>A MANE Select | NP_004457.1:n.325+102637G>A |