Linked Data
dbSNP Id:
rs150036305
ExAC:
12:91449380 C / T
gnomAD v2:
12-91449380-C-T
gnomAD v3:
12-91055603-C-T
gnomAD v4:
12-91055603-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055603C>T , CM000674.2:g.91055603C>T | GRCh38 |
| NC_000012.11:g.91449380C>T , CM000674.1:g.91449380C>T | GRCh37 |
| NC_000012.10:g.89973511C>T | NCBI36 |
| NG_021223.1:g.7752G>A , LRG_538:g.7752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.679G>A MANE Select | ENSP00000266719.3:p.Gly227Arg | |
| ENST00000266719.3:c.679G>A | ENSP00000266719.3:p.Gly227Arg | |
| NM_007035.3:c.679G>A , LRG_538t1:c.679G>A | NP_008966.1:p.Gly227Arg | |
| XM_011537781.1:c.679G>A | XP_011536083.1:p.Gly227Arg | |
| NM_007035.4:c.679G>A MANE Select | NP_008966.1:p.Gly227Arg |