Linked Data
dbSNP Id:
rs1173100409
gnomAD v2:
7-7399342-G-C
gnomAD v3:
7-7359711-G-C
gnomAD v4:
7-7359711-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7359711G>C , CM000669.2:g.7359711G>C | GRCh38 |
| NC_000007.13:g.7399342G>C , CM000669.1:g.7399342G>C | GRCh37 |
| NC_000007.12:g.7365867G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399429.8:c.3205+679C>G MANE Select | ENSP00000382356.3:n.3205+679C>G | |
| ENST00000399429.7:c.3205+679C>G | ENSP00000382356.3:n.3205+679C>G | |
| ENST00000430711.5:c.256+679C>G | ENSP00000413093.1:n.256+679C>G | |
| ENST00000453441.1:c.70+679C>G | ENSP00000391380.1:n.70+679C>G | |
| NM_001037763.2:c.3205+679C>G | NP_001032852.2:n.3205+679C>G | |
| XM_011515358.1:c.3205+679C>G | XP_011513660.1:n.3205+679C>G | |
| XM_011515359.1:c.3205+679C>G | XP_011513661.1:n.3205+679C>G | |
| XM_011515360.1:c.3205+679C>G | XP_011513662.1:n.3205+679C>G | |
| XM_011515362.1:c.2056+679C>G | XP_011513664.1:n.2056+679C>G | |
| XR_926936.1:n.3408+679C>G | ||
| XM_011515358.3:c.3205+679C>G | XP_011513660.1:n.3205+679C>G | |
| XM_011515359.2:c.3205+679C>G | XP_011513661.1:n.3205+679C>G | |
| XM_011515360.2:c.3205+679C>G | XP_011513662.1:n.3205+679C>G | |
| XM_011515362.2:c.2056+679C>G | XP_011513664.1:n.2056+679C>G | |
| XM_017012131.2:c.3205+679C>G | XP_016867620.1:n.3205+679C>G | |
| XM_017012132.2:c.3205+679C>G | XP_016867621.1:n.3205+679C>G | |
| XR_001744688.1:n.4831+679C>G | ||
| XR_926936.3:n.4607+679C>G | ||
| NM_001037763.3:c.3205+679C>G MANE Select | NP_001032852.2:n.3205+679C>G |