Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130762C>T , CM000668.2:g.18130762C>T | GRCh38 |
| NC_000006.11:g.18130993C>T , CM000668.1:g.18130993C>T | GRCh37 |
| NC_000006.10:g.18238972C>T | NCBI36 |
| NG_012137.2:g.29382G>A | |
| NG_012137.3:g.29382G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000367.5:c.644G>A MANE Select | NP_000358.1:p.Arg215His |
| ENST00000309983.5:c.644G>A MANE Select | ENSP00000312304.4:p.Arg215His |
| NM_000367.3:c.644G>A | NP_000358.1:p.Arg215His |
| NM_000367.4:c.644G>A | NP_000358.1:p.Arg215His |
| NM_001346817.1:c.644G>A | NP_001333746.1:p.Arg215His |
| NM_001346818.1:c.599G>A | NP_001333747.1:p.Arg200His |
| ENST00000309983.4:c.644G>A | ENSP00000312304.4:p.Arg215His |
| XM_011514839.1:c.599G>A | XP_011513141.1:p.Arg200His |
| XM_011514840.1:c.575G>A | XP_011513142.1:p.Arg192His |