Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85546164A>G , CM000664.2:g.85546164A>G | GRCh38 |
| NC_000002.11:g.85773287A>G , CM000664.1:g.85773287A>G | GRCh37 |
| NC_000002.10:g.85626798A>G | NCBI36 |
| NG_011811.2:g.20371T>C | |
| NG_029183.1:g.12187A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000821.7:c.*3770T>C MANE Select | NP_000812.2:n.*3770T>C |
| ENST00000233838.9:c.*3770T>C MANE Select | ENSP00000233838.3:n.*3770T>C |
| NM_000821.5:c.*3770T>C | NP_000812.2:n.*3770T>C |
| NM_000821.6:c.*3770T>C | NP_000812.2:n.*3770T>C |
| NM_001142269.2:c.*3770T>C | NP_001135741.1:n.*3770T>C |
| NM_001142269.3:c.*3770T>C | NP_001135741.1:n.*3770T>C |
| NM_001142269.4:c.*3770T>C | NP_001135741.1:n.*3770T>C |
| ENST00000233838.8:c.*3770T>C | ENSP00000233838.3:n.*3770T>C |