Linked Data
dbSNP Id:
rs4848632
gnomAD v2:
2-121562595-A-G
gnomAD v3:
2-120805019-A-G
gnomAD v4:
2-120805019-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120805019A>G , CM000664.2:g.120805019A>G | GRCh38 |
| NC_000002.11:g.121562595A>G , CM000664.1:g.121562595A>G | GRCh37 |
| NC_000002.10:g.121279065A>G | NCBI36 |
| NG_009030.1:g.12729A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361492.9:c.148+7551A>G MANE Select | ENSP00000354586.5:n.148+7551A>G | |
| ENST00000418323.6:c.148+7551A>G | ENSP00000398992.1:n.148+7551A>G | |
| ENST00000452319.6:c.148+7551A>G | ENSP00000390436.1:n.148+7551A>G | |
| ENST00000482119.6:c.148+7551A>G | ENSP00000502423.1:n.148+7551A>G | |
| ENST00000314490.15:c.-140+7551A>G | ENSP00000312694.12:n.-140+7551A>G | |
| ENST00000341310.10:c.148+7551A>G | ENSP00000344473.6:n.148+7551A>G | |
| ENST00000360874.10:c.124+7551A>G | ENSP00000441454.1:n.124+7551A>G | |
| ENST00000361492.8:c.148+7551A>G | ENSP00000354586.4:n.148+7551A>G | |
| ENST00000418323.5:c.148+7551A>G | ENSP00000398992.1:n.148+7551A>G | |
| ENST00000433812.1:c.124+7551A>G | ENSP00000402383.1:n.124+7551A>G | |
| ENST00000435313.6:n.173+7551A>G | ||
| ENST00000437950.5:c.148+7551A>G | ENSP00000415773.1:n.148+7551A>G | |
| ENST00000438299.5:c.148+7551A>G | ENSP00000400593.1:n.148+7551A>G | |
| ENST00000445186.5:c.148+7551A>G | ENSP00000397488.1:n.148+7551A>G | |
| ENST00000452319.5:c.148+7551A>G | ENSP00000390436.1:n.148+7551A>G | |
| ENST00000452692.5:c.148+7551A>G | ENSP00000403715.1:n.148+7551A>G | |
| ENST00000472722.5:n.237+7551A>G | ||
| ENST00000482119.5:n.237+7551A>G | ||
| NM_005270.4:c.148+7551A>G | NP_005261.2:n.148+7551A>G | |
| XM_006712422.1:c.148+7551A>G | XP_006712485.1:n.148+7551A>G | |
| XM_011510973.1:c.-122+7551A>G | XP_011509275.1:n.-122+7551A>G | |
| XM_011510974.1:c.-122+7551A>G | XP_011509276.1:n.-122+7551A>G | |
| XM_006712422.3:c.148+7551A>G | XP_006712485.1:n.148+7551A>G | |
| XM_011510973.2:c.-122+7551A>G | XP_011509275.1:n.-122+7551A>G | |
| XM_011510974.2:c.-122+7551A>G | XP_011509276.1:n.-122+7551A>G | |
| XM_024452794.1:c.148+7551A>G | XP_024308562.1:n.148+7551A>G | |
| XM_024452795.1:c.148+7551A>G | XP_024308563.1:n.148+7551A>G | |
| NM_001371271.1:c.148+7551A>G | NP_001358200.1:n.148+7551A>G | |
| NM_001374353.1:c.148+7551A>G MANE Select | NP_001361282.1:n.148+7551A>G | |
| NM_001374354.1:c.-122+7551A>G | NP_001361283.1:n.-122+7551A>G | |
| NM_005270.5:c.148+7551A>G | NP_005261.2:n.148+7551A>G |