Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.841940G>C , CM000671.2:g.841940G>C | GRCh38 |
| NC_000009.11:g.841940G>C , CM000671.1:g.841940G>C | GRCh37 |
| NC_000009.10:g.831940G>C | NCBI36 |
| NG_009221.1:g.5251G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.102G>C MANE Select | ENSP00000371711.3:p.Ala34= | |
| ENST00000382276.7:c.102G>C | ENSP00000371711.3:p.Ala34= | |
| ENST00000564322.1:n.251G>C | ||
| NM_021951.2:c.102G>C | NP_068770.2:p.Ala34= | |
| XM_006716732.1:c.102G>C | XP_006716795.1:p.Ala34= | |
| XM_017014375.1:c.102G>C | XP_016869864.1:p.Ala34= | |
| NM_021951.3:c.102G>C MANE Select | NP_068770.2:p.Ala34= |