Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118525C>T , CM000676.2:g.50118525C>T | GRCh38 |
| NC_000014.8:g.50585243C>T , CM000676.1:g.50585243C>T | GRCh37 |
| NC_000014.7:g.49654993C>T | NCBI36 |
| NG_051073.1:g.118169G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.3818G>A MANE Select | NP_008870.2:p.Arg1273Gln |
| ENST00000216373.10:c.3818G>A MANE Select | ENSP00000216373.5:p.Arg1273Gln |
| NM_006939.2:c.3818G>A | NP_008870.2:p.Arg1273Gln |
| NM_006939.3:c.3818G>A | NP_008870.2:p.Arg1273Gln |
| ENST00000216373.9:c.3818G>A | ENSP00000216373.5:p.Arg1273Gln |
| ENST00000543680.5:c.3719G>A | ENSP00000445328.1:p.Arg1240Gln |
| XM_005268021.1:c.3638G>A | XP_005268078.1:p.Arg1213Gln |
| XM_011537103.1:c.3779G>A | XP_011535405.1:p.Arg1260Gln |