Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169513475A>G , CM000663.2:g.169513475A>G | GRCh38 |
| NC_000001.10:g.169482713A>G , CM000663.1:g.169482713A>G | GRCh37 |
| NC_000001.9:g.167749337A>G | NCBI36 |
| NG_011806.1:g.78057T>C , LRG_553:g.78057T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.*838T>C MANE Select | NP_000121.2:n.*838T>C |
| ENST00000367797.9:c.*838T>C MANE Select | ENSP00000356771.3:n.*838T>C |
| NM_000130.4:c.*838T>C , LRG_553t1:c.*838T>C | NP_000121.2:n.*838T>C |
| XM_017000660.2:c.*838T>C | XP_016856149.1:n.*838T>C |