Linked Data
dbSNP Id:
rs562442577
gnomAD v2:
4-178361749-T-C
gnomAD v3:
4-177440595-T-C
gnomAD v4:
4-177440595-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177440595T>C , CM000666.2:g.177440595T>C | GRCh38 |
| NC_000004.11:g.178361749T>C , CM000666.1:g.178361749T>C | GRCh37 |
| NC_000004.10:g.178598743T>C | NCBI36 |
| NG_011845.2:g.6909A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.128-169A>G MANE Select | ENSP00000264595.2:n.128-169A>G | |
| ENST00000264595.6:c.128-169A>G | ENSP00000264595.2:n.128-169A>G | |
| ENST00000506853.5:n.162-169A>G | ||
| ENST00000510955.5:n.162-169A>G | ||
| ENST00000511231.1:n.162-169A>G | ||
| NM_000027.3:c.128-169A>G | NP_000018.2:n.128-169A>G | |
| NM_001171988.1:c.128-169A>G | NP_001165459.1:n.128-169A>G | |
| NR_033655.1:n.256-169A>G | ||
| XM_006714123.2:c.128-169A>G | XP_006714186.1:n.128-169A>G | |
| XR_001741155.2:n.222-169A>G | ||
| NM_000027.4:c.128-169A>G MANE Select | NP_000018.2:n.128-169A>G | |
| NM_001171988.2:c.128-169A>G | NP_001165459.1:n.128-169A>G | |
| NR_033655.2:n.190-169A>G |