Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.107487177C>G , CM000671.2:g.107487177C>G | GRCh38 |
| NC_000009.11:g.110249458C>G , CM000671.1:g.110249458C>G | GRCh37 |
| NC_000009.10:g.109289279C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004235.6:c.1115G>C MANE Select | NP_004226.3:p.Gly372Ala |
| ENST00000374672.5:c.1115G>C MANE Select | ENSP00000363804.4:p.Gly372Ala |
| NM_001314052.1:c.1217G>C | NP_001300981.1:p.Gly406Ala |
| NM_001314052.2:c.1217G>C | NP_001300981.1:p.Gly406Ala |
| NM_004235.4:c.1115G>C | NP_004226.3:p.Gly372Ala |
| NM_004235.5:c.1115G>C | NP_004226.3:p.Gly372Ala |
| ENST00000374672.4:c.1115G>C | ENSP00000363804.4:p.Gly372Ala |
| ENST00000493306.1:n.1482G>C | |
| ENST00000497048.5:n.1169G>C | |
| ENST00000610832.1:c.113G>C | ENSP00000483629.1:p.Gly38Ala |