Linked Data
dbSNP Id:
rs1042553695
gnomAD v2:
7-2265410-T-C
gnomAD v3:
7-2225775-T-C
gnomAD v4:
7-2225775-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2225775T>C , CM000669.2:g.2225775T>C | GRCh38 |
| NC_000007.13:g.2265410T>C , CM000669.1:g.2265410T>C | GRCh37 |
| NC_000007.12:g.2231936T>C | NCBI36 |
| NG_011518.1:g.12174A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265854.12:c.151-225A>G MANE Select | ENSP00000265854.7:n.151-225A>G | |
| ENST00000651235.1:c.*2559-225A>G | ENSP00000498895.1:n.*2559-225A>G | |
| ENST00000265854.11:c.151-225A>G | ENSP00000265854.7:n.151-225A>G | |
| ENST00000399654.6:c.151-225A>G | ENSP00000382562.2:n.151-225A>G | |
| ENST00000402746.5:c.-124-3021A>G | ENSP00000384155.1:n.-124-3021A>G | |
| ENST00000406869.5:c.151-225A>G | ENSP00000385334.1:n.151-225A>G | |
| ENST00000429779.1:c.151-225A>G | ENSP00000395457.1:n.151-225A>G | |
| ENST00000455998.5:c.151-3021A>G | ENSP00000390099.1:n.151-3021A>G | |
| NM_001013836.1:c.151-225A>G | NP_001013858.1:n.151-225A>G | |
| NM_001013837.1:c.151-225A>G | NP_001013859.1:n.151-225A>G | |
| NM_001304523.1:c.151-225A>G | NP_001291452.1:n.151-225A>G | |
| NM_001304524.1:c.-124-3021A>G | NP_001291453.1:n.-124-3021A>G | |
| NM_003550.2:c.151-225A>G | NP_003541.2:n.151-225A>G | |
| XM_005249877.1:c.151-3021A>G | XP_005249934.1:n.151-3021A>G | |
| XM_011515567.1:c.151-225A>G | XP_011513869.1:n.151-225A>G | |
| XM_011515568.1:c.151-225A>G | XP_011513870.1:n.151-225A>G | |
| XM_011515570.1:c.151-225A>G | XP_011513872.1:n.151-225A>G | |
| XM_011515568.3:c.151-225A>G | XP_011513870.1:n.151-225A>G | |
| XM_017012690.1:c.151-33A>G | XP_016868179.1:n.151-33A>G | |
| XM_024446951.1:c.151-225A>G | XP_024302719.1:n.151-225A>G | |
| XM_024446952.1:c.151-225A>G | XP_024302720.1:n.151-225A>G | |
| NM_001013836.2:c.151-225A>G MANE Select | NP_001013858.1:n.151-225A>G | |
| NM_001013837.2:c.151-225A>G | NP_001013859.1:n.151-225A>G | |
| NM_001304523.2:c.151-225A>G | NP_001291452.1:n.151-225A>G | |
| NM_001304524.2:c.-124-3021A>G | NP_001291453.1:n.-124-3021A>G | |
| NM_003550.3:c.151-225A>G | NP_003541.2:n.151-225A>G |