Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10639400G>A , CM000679.2:g.10639400G>A | GRCh38 |
| NC_000017.10:g.10542717G>A , CM000679.1:g.10542717G>A | GRCh37 |
| NC_000017.9:g.10483442G>A | NCBI36 |
| NG_011537.1:g.22899C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583535.6:c.3000C>T MANE Select | ENSP00000464317.1:p.Leu1000= | |
| ENST00000583535.5:c.3000C>T | ENSP00000464317.1:p.Leu1000= | |
| NM_002470.3:c.3000C>T | NP_002461.2:p.Leu1000= | |
| XM_011523870.1:c.3000C>T | XP_011522172.1:p.Leu1000= | |
| XM_011523871.1:c.3000C>T | XP_011522173.1:p.Leu1000= | |
| XM_011523872.1:c.3000C>T | XP_011522174.1:p.Leu1000= | |
| XM_011523870.3:c.3000C>T | XP_011522172.1:p.Leu1000= | |
| XM_011523871.2:c.3000C>T | XP_011522173.1:p.Leu1000= | |
| NM_002470.4:c.3000C>T MANE Select | NP_002461.2:p.Leu1000= |