Linked Data
dbSNP Id:
rs17161018
gnomAD v2:
7-86444931-G-A
gnomAD v3:
7-86815615-G-A
gnomAD v4:
7-86815615-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.86815615G>A , CM000669.2:g.86815615G>A | GRCh38 |
| NC_000007.13:g.86444931G>A , CM000669.1:g.86444931G>A | GRCh37 |
| NC_000007.12:g.86282867G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361669.7:c.1325-23224G>A MANE Select | ENSP00000355316.2:n.1325-23224G>A | |
| ENST00000361669.6:c.1325-23224G>A | ENSP00000355316.2:n.1325-23224G>A | |
| ENST00000439827.1:c.1324+28499G>A | ENSP00000398767.1:n.1324+28499G>A | |
| NM_000840.2:c.1325-23224G>A | NP_000831.2:n.1325-23224G>A | |
| XM_011516088.1:c.1324+28499G>A | XP_011514390.1:n.1324+28499G>A | |
| XM_011516090.1:c.1325-17407G>A | XP_011514392.1:n.1325-17407G>A | |
| NM_001363522.1:c.1324+28499G>A | NP_001350451.1:n.1324+28499G>A | |
| NM_000840.3:c.1325-23224G>A MANE Select | NP_000831.2:n.1325-23224G>A | |
| NM_001363522.2:c.1324+28499G>A | NP_001350451.1:n.1324+28499G>A |