Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.120693729C>T , CM000670.2:g.120693729C>T | GRCh38 |
| NC_000008.10:g.121705969C>T , CM000670.1:g.121705969C>T | GRCh37 |
| NC_000008.9:g.121775150C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517992.2:c.751G>A MANE Select | ENSP00000431124.1:p.Val251Ile | |
| ENST00000648490.1:c.751G>A | ENSP00000497707.1:p.Val251Ile | |
| ENST00000395601.7:c.751G>A | ENSP00000378965.3:p.Val251Ile | |
| ENST00000517992.1:c.751G>A | ENSP00000431124.1:p.Val251Ile | |
| ENST00000519177.5:n.471G>A | ||
| ENST00000519298.1:n.180G>A | ||
| NM_021021.3:c.751G>A | NP_066301.1:p.Val251Ile | |
| XM_011517239.1:c.751G>A | XP_011515541.1:p.Val251Ile | |
| XM_011517239.2:c.751G>A | XP_011515541.1:p.Val251Ile | |
| NM_021021.4:c.751G>A MANE Select | NP_066301.1:p.Val251Ile |