Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40133082T>G , CM000669.2:g.40133082T>G | GRCh38 |
| NC_000007.13:g.40172681T>G , CM000669.1:g.40172681T>G | GRCh37 |
| NC_000007.12:g.40139206T>G | NCBI36 |
| NG_016989.2:g.6571A>C | |
| NG_023422.1:g.3107T>G | |
| NG_023422.2:g.3107T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138701.4:c.517A>C MANE Select | NP_619646.1:p.Lys173Gln |
| ENST00000306984.8:c.517A>C MANE Select | ENSP00000304553.5:p.Lys173Gln |
| NM_138701.3:c.517A>C | NP_619646.1:p.Lys173Gln |
| ENST00000306984.6:c.517A>C | ENSP00000304553.5:p.Lys173Gln |