Linked Data
dbSNP Id:
rs7308402
gnomAD v2:
12-117759447-G-A
gnomAD v3:
12-117321642-G-A
gnomAD v4:
12-117321642-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117321642G>A , CM000674.2:g.117321642G>A | GRCh38 |
| NC_000012.11:g.117759447G>A , CM000674.1:g.117759447G>A | GRCh37 |
| NC_000012.10:g.116243830G>A | NCBI36 |
| NG_011991.2:g.45136C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317775.11:c.725+8703C>T MANE Select | ENSP00000320758.6:n.725+8703C>T | |
| ENST00000317775.10:c.725+8703C>T | ENSP00000320758.6:n.725+8703C>T | |
| ENST00000338101.8:c.725+8703C>T | ENSP00000337459.4:n.725+8703C>T | |
| ENST00000344089.4:c.722+8703C>T | ENSP00000339862.4:n.722+8703C>T | |
| ENST00000618760.4:c.725+8703C>T | ENSP00000477999.1:n.725+8703C>T | |
| NM_000620.4:c.725+8703C>T | NP_000611.1:n.725+8703C>T | |
| NM_001204218.1:c.725+8703C>T | NP_001191147.1:n.725+8703C>T | |
| XM_011538398.1:c.725+8703C>T | XP_011536700.1:n.725+8703C>T | |
| NM_000620.5:c.725+8703C>T MANE Select | NP_000611.1:n.725+8703C>T | |
| NM_001204218.2:c.725+8703C>T | NP_001191147.1:n.725+8703C>T |