Linked Data
dbSNP Id:
rs12514426
gnomAD v2:
5-167893708-G-A
gnomAD v3:
5-168466703-G-A
gnomAD v4:
5-168466703-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168466703G>A , CM000667.2:g.168466703G>A | GRCh38 |
| NC_000005.9:g.167893708G>A , CM000667.1:g.167893708G>A | GRCh37 |
| NC_000005.8:g.167826286G>A | NCBI36 |
| NG_016712.1:g.179644G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265293.9:c.3151-1137G>A MANE Select | ENSP00000265293.4:n.3151-1137G>A | |
| ENST00000265293.8:c.3151-1137G>A | ENSP00000265293.4:n.3151-1137G>A | |
| ENST00000393895.7:c.3053-1140G>A | ||
| ENST00000521089.5:c.3169-1137G>A | ENSP00000427772.1:n.3169-1137G>A | |
| ENST00000521391.1:n.36-1140G>A | ||
| ENST00000522140.1:n.967-1137G>A | ||
| ENST00000524038.5:c.1147-1140G>A | ENSP00000428084.1:n.1147-1140G>A | |
| ENST00000524228.5:c.2480-1140G>A | ||
| ENST00000619752.1:c.967-1137G>A | ENSP00000483898.1:n.967-1137G>A | |
| NM_001161661.1:c.3169-1137G>A | NP_001155133.1:n.3169-1137G>A | |
| NM_001161662.1:c.3169-1140G>A | NP_001155134.1:n.3169-1140G>A | |
| NM_015238.2:c.3151-1137G>A | NP_056053.1:n.3151-1137G>A | |
| XM_005265850.1:c.3184-1137G>A | XP_005265907.1:n.3184-1137G>A | |
| XM_005265853.1:c.3151-1140G>A | XP_005265910.1:n.3151-1140G>A | |
| XM_011534485.1:c.3367-1137G>A | XP_011532787.1:n.3367-1137G>A | |
| XM_011534486.1:c.3367-1140G>A | XP_011532788.1:n.3367-1140G>A | |
| XM_011534487.1:c.3352-1137G>A | XP_011532789.1:n.3352-1137G>A | |
| XM_011534488.1:c.3349-1137G>A | XP_011532790.1:n.3349-1137G>A | |
| XM_011534489.1:c.3352-1140G>A | XP_011532791.1:n.3352-1140G>A | |
| XM_011534490.1:c.3349-1140G>A | XP_011532792.1:n.3349-1140G>A | |
| XM_011534491.1:c.3334-1137G>A | XP_011532793.1:n.3334-1137G>A | |
| XM_005265853.2:c.3151-1140G>A | XP_005265910.1:n.3151-1140G>A | |
| XM_017009276.1:c.3334-1140G>A | XP_016864765.1:n.3334-1140G>A | |
| XM_017009278.1:c.2902-1137G>A | XP_016864767.1:n.2902-1137G>A | |
| NM_001161661.2:c.3169-1137G>A | NP_001155133.1:n.3169-1137G>A | |
| NM_001161662.2:c.3169-1140G>A | NP_001155134.1:n.3169-1140G>A | |
| NM_015238.3:c.3151-1137G>A MANE Select | NP_056053.1:n.3151-1137G>A |