Linked Data
dbSNP Id:
rs534654
gnomAD v2:
4-56290220-A-G
gnomAD v3:
4-55424053-A-G
gnomAD v4:
4-55424053-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55424053A>G , CM000666.2:g.55424053A>G | GRCh38 |
| NC_000004.11:g.56290220A>G , CM000666.1:g.56290220A>G | GRCh37 |
| NC_000004.10:g.55984977A>G | NCBI36 |
| NG_032881.1:g.33141A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381334.10:c.793-485A>G MANE Select | ENSP00000370736.5:n.793-485A>G | |
| ENST00000381334.9:c.793-485A>G | ENSP00000370736.5:n.793-485A>G | |
| ENST00000506103.2:c.247-485A>G | ||
| ENST00000506198.5:c.208-485A>G | ENSP00000425449.1:n.208-485A>G | |
| ENST00000508404.5:c.*665-485A>G | ENSP00000422639.1:n.*665-485A>G | |
| ENST00000508561.5:n.489-485A>G | ||
| ENST00000509575.1:n.296-485A>G | ||
| ENST00000514904.5:n.1247-485A>G | ||
| ENST00000515591.1:n.940A>G | ||
| ENST00000608091.1:c.303-485A>G | ||
| NM_018475.4:c.793-485A>G | NP_060945.2:n.793-485A>G | |
| NR_073070.1:n.1173-485A>G | ||
| XM_011534394.1:c.793-485A>G | XP_011532696.1:n.793-485A>G | |
| XM_011534394.3:c.793-485A>G | XP_011532696.1:n.793-485A>G | |
| XM_017008412.1:c.604-485A>G | XP_016863901.1:n.604-485A>G | |
| XR_001741287.2:n.1509-485A>G | ||
| NM_018475.5:c.793-485A>G MANE Select | NP_060945.2:n.793-485A>G | |
| NR_073070.2:n.1129-485A>G |