Linked Data
dbSNP Id:
rs745602665
gnomAD v2:
7-120305036-T-G
gnomAD v3:
7-120664982-T-G
gnomAD v4:
7-120664982-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120664982T>G , CM000669.2:g.120664982T>G | GRCh38 |
| NC_000007.13:g.120305036T>G , CM000669.1:g.120305036T>G | GRCh37 |
| NC_000007.12:g.120092272T>G | NCBI36 |
| NG_034230.1:g.396315T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331113.9:c.1116-67921T>G MANE Select | ENSP00000333496.4:n.1116-67921T>G | |
| ENST00000331113.8:c.1116-67921T>G | ENSP00000333496.4:n.1116-67921T>G | |
| NM_012281.2:c.1116-67921T>G | NP_036413.1:n.1116-67921T>G | |
| NM_012281.3:c.1116-67921T>G MANE Select | NP_036413.1:n.1116-67921T>G |