Linked Data
dbSNP Id:
rs771078272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57094623G>C , CM000674.2:g.57094623G>C | GRCh38 |
| NC_000012.11:g.57488406G>C , CM000674.1:g.57488406G>C | GRCh37 |
| NC_000012.10:g.55774673G>C | NCBI36 |
| NG_021272.1:g.21791C>G | |
| NG_021272.2:g.42517C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300131.8:c.1480G>C MANE Select | ENSP00000300131.3:p.Gly494Arg | |
| ENST00000300131.7:c.1480G>C | ENSP00000300131.3:p.Gly494Arg | |
| ENST00000342556.6:c.1288G>C | ENSP00000341491.6:p.Gly430Arg | |
| NM_005967.3:c.1480G>C | NP_005958.1:p.Gly494Arg | |
| XM_005268894.2:c.1288G>C | XP_005268951.1:p.Gly430Arg | |
| NM_001330305.1:c.1288G>C | NP_001317234.1:p.Gly430Arg | |
| NM_005967.4:c.1480G>C MANE Select | NP_005958.1:p.Gly494Arg | |
| NM_001330305.2:c.1288G>C | NP_001317234.1:p.Gly430Arg |