Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85546552A>C , CM000664.2:g.85546552A>C | GRCh38 |
| NC_000002.11:g.85773675A>C , CM000664.1:g.85773675A>C | GRCh37 |
| NC_000002.10:g.85627186A>C | NCBI36 |
| NG_011811.2:g.19983T>G | |
| NG_029183.1:g.12575A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233838.9:c.*3382T>G MANE Select | ENSP00000233838.3:n.*3382T>G | |
| ENST00000233838.8:c.*3382T>G | ENSP00000233838.3:n.*3382T>G | |
| NM_000821.5:c.*3382T>G | NP_000812.2:n.*3382T>G | |
| NM_000821.6:c.*3382T>G | NP_000812.2:n.*3382T>G | |
| NM_001142269.2:c.*3382T>G | NP_001135741.1:n.*3382T>G | |
| NM_001142269.3:c.*3382T>G | NP_001135741.1:n.*3382T>G | |
| NM_000821.7:c.*3382T>G MANE Select | NP_000812.2:n.*3382T>G | |
| NM_001142269.4:c.*3382T>G | NP_001135741.1:n.*3382T>G |