Linked Data
dbSNP Id:
rs1220479022
gnomAD v2:
12-15130790-A-G
gnomAD v3:
12-14977856-A-G
gnomAD v4:
12-14977856-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14977856A>G , CM000674.2:g.14977856A>G | GRCh38 |
| NC_000012.11:g.15130790A>G , CM000674.1:g.15130790A>G | GRCh37 |
| NC_000012.10:g.15022057A>G | NCBI36 |
| NG_016859.1:g.9835A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.-41-116A>G MANE Select | ENSP00000266395.2:n.-41-116A>G | |
| ENST00000266395.2:c.-41-116A>G | ENSP00000266395.2:n.-41-116A>G | |
| NM_006205.2:c.-41-116A>G | NP_006196.1:n.-41-116A>G | |
| XR_931376.1:n.175+11631T>C | ||
| XM_017019431.2:c.-157A>G | XP_016874920.1:n.-157A>G | |
| XR_931376.2:n.389+11631T>C | ||
| NM_006205.3:c.-41-116A>G MANE Select | NP_006196.1:n.-41-116A>G |