gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4507513A>G , CM000671.2:g.4507513A>G | GRCh38 |
| NC_000009.11:g.4507513A>G , CM000671.1:g.4507513A>G | GRCh37 |
| NC_000009.10:g.4497513A>G | NCBI36 |
| NG_017044.1:g.22087A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.91+16743A>G MANE Select | ENSP00000262352.3:n.91+16743A>G | |
| ENST00000262352.7:c.91+16743A>G | ENSP00000262352.3:n.91+16743A>G | |
| NM_004170.5:c.91+16743A>G | NP_004161.4:n.91+16743A>G | |
| XM_011518007.1:c.92-12315A>G | XP_011516309.1:n.92-12315A>G | |
| XM_011518010.1:c.91+16743A>G | XP_011516312.1:n.91+16743A>G | |
| XM_017015042.1:c.92-12315A>G | XP_016870531.1:n.92-12315A>G | |
| XM_017015043.1:c.91+16743A>G | XP_016870532.1:n.91+16743A>G | |
| NM_004170.6:c.91+16743A>G MANE Select | NP_004161.4:n.91+16743A>G |