Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993203T>C , CM000678.2:g.30993203T>C | GRCh38 |
| NC_000016.9:g.31004524T>C , CM000678.1:g.31004524T>C | GRCh37 |
| NC_000016.8:g.30912025T>C | NCBI36 |
| NG_041829.1:g.22306A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.713A>G MANE Select | ENSP00000215095.5:p.His238Arg | |
| ENST00000565419.2:c.713A>G | ENSP00000455899.1:p.His238Arg | |
| ENST00000215095.9:c.713A>G | ENSP00000215095.5:p.His238Arg | |
| ENST00000565419.1:c.713A>G | ENSP00000455899.1:p.His238Arg | |
| ENST00000569638.5:c.461A>G | ENSP00000457067.1:p.His154Arg | |
| NM_052874.4:c.713A>G | NP_443106.1:p.His238Arg | |
| XM_017022893.1:c.695A>G | XP_016878382.1:p.His232Arg | |
| NM_052874.5:c.713A>G MANE Select | NP_443106.1:p.His238Arg |