Linked Data
dbSNP Id:
rs1048274
gnomAD v2:
9-6256292-G-A
gnomAD v3:
9-6256292-G-A
gnomAD v4:
9-6256292-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6256292G>A , CM000671.2:g.6256292G>A | GRCh38 |
| NC_000009.11:g.6256292G>A , CM000671.1:g.6256292G>A | GRCh37 |
| NC_000009.10:g.6246292G>A | NCBI36 |
| NG_047209.1:g.46144G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682010.1:c.*124G>A MANE Select | ENSP00000507310.1:n.*124G>A | |
| ENST00000381434.7:c.*124G>A | ENSP00000370842.3:n.*124G>A | |
| ENST00000417746.6:c.*124G>A | ENSP00000394039.2:n.*124G>A | |
| ENST00000456383.3:c.811G>A | ENSP00000414238.2:n.811G>A | |
| NM_001199640.1:c.*124G>A | NP_001186569.1:n.*124G>A | |
| NM_001199641.1:c.*124G>A | NP_001186570.1:n.*124G>A | |
| NM_001314044.1:c.*124G>A | NP_001300973.1:n.*124G>A | |
| NM_001314045.1:c.*124G>A | NP_001300974.1:n.*124G>A | |
| NM_001314046.1:c.*124G>A | NP_001300975.1:n.*124G>A | |
| NM_001314047.1:c.*124G>A | NP_001300976.1:n.*124G>A | |
| NM_001314048.1:c.*124G>A | NP_001300977.1:n.*124G>A | |
| NM_033439.3:c.*124G>A | NP_254274.1:n.*124G>A | |
| XM_011518061.1:c.*124G>A | XP_011516363.1:n.*124G>A | |
| NM_001353802.1:c.*124G>A | NP_001340731.1:n.*124G>A | |
| XM_017015285.1:c.*124G>A | XP_016870774.1:n.*124G>A | |
| XR_001746614.1:n.153-27997C>T | ||
| NM_001199640.2:c.*124G>A | NP_001186569.1:n.*124G>A | |
| NM_001314044.2:c.*124G>A | NP_001300973.1:n.*124G>A | |
| NM_001314045.2:c.*124G>A | NP_001300974.1:n.*124G>A | |
| NM_001314046.2:c.*124G>A | NP_001300975.1:n.*124G>A | |
| NM_001314047.2:c.*124G>A | NP_001300976.1:n.*124G>A | |
| NM_001314048.2:c.*124G>A | NP_001300977.1:n.*124G>A | |
| NM_001353802.2:c.*124G>A | NP_001340731.1:n.*124G>A | |
| NM_033439.4:c.*124G>A MANE Select | NP_254274.1:n.*124G>A | |
| NM_001199641.2:c.*124G>A | NP_001186570.1:n.*124G>A |