Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15807446T>G , CM000681.2:g.15807446T>G | GRCh38 |
| NC_000019.9:g.15918256T>G , CM000681.1:g.15918256T>G | GRCh37 |
| NC_000019.8:g.15779256T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013940.4:c.592A>C MANE Select | NP_039228.1:p.Lys198Gln |
| ENST00000641419.1:c.592A>C MANE Select | ENSP00000493436.1:p.Lys198Gln |
| NM_013940.2:c.592A>C | NP_039228.1:p.Lys198Gln |
| NM_013940.3:c.592A>C | NP_039228.1:p.Lys198Gln |
| ENST00000334920.3:c.592A>C | ENSP00000335596.2:p.Lys198Gln |
| XM_011527911.1:c.592A>C | XP_011526213.1:p.Lys198Gln |