Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23392829T>C , CM000685.2:g.23392829T>C | GRCh38 |
| NC_000023.10:g.23410946T>C , CM000685.1:g.23410946T>C | GRCh37 |
| NC_000023.9:g.23320867T>C | NCBI36 |
| NG_021300.1:g.62962T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379361.5:c.1311T>C MANE Select | ENSP00000368666.4:p.His437= | |
| ENST00000379361.4:c.1311T>C | ENSP00000368666.4:p.His437= | |
| ENST00000456522.1:c.457T>C | ||
| NM_173495.2:c.1311T>C | NP_775766.2:p.His437= | |
| XM_011545449.1:c.1311T>C | XP_011543751.1:p.His437= | |
| XM_011545449.3:c.1311T>C | XP_011543751.1:p.His437= | |
| NM_173495.3:c.1311T>C MANE Select | NP_775766.2:p.His437= |