Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25207069G>C , CM000684.2:g.25207069G>C | GRCh38 |
| NC_000022.10:g.25603036G>C , CM000684.1:g.25603036G>C | GRCh37 |
| NC_000022.9:g.23933036G>C | NCBI36 |
| NG_009828.1:g.12212G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004076.5:c.493G>C MANE Select | NP_004067.1:p.Gly165Arg |
| ENST00000215855.7:c.493G>C MANE Select | ENSP00000215855.2:p.Gly165Arg |
| NM_004076.4:c.493G>C | NP_004067.1:p.Gly165Arg |
| ENST00000215855.6:c.493G>C | ENSP00000215855.2:p.Gly165Arg |
| ENST00000404334.1:c.*8G>C | ENSP00000386123.1:n.*8G>C |
| XM_011529902.1:c.661G>C | XP_011528204.1:p.Gly221Arg |
| XM_011529902.3:c.661G>C | XP_011528204.1:p.Gly221Arg |
| XM_017028599.2:c.*8G>C | XP_016884088.1:n.*8G>C |