Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.65720794T>A , CM000667.2:g.65720794T>A | GRCh38 |
| NC_000005.9:g.65016621T>A , CM000667.1:g.65016621T>A | GRCh37 |
| NC_000005.8:g.65052377T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019072.3:c.14A>T MANE Select | NP_061945.1:p.Lys5Met |
| ENST00000381007.9:c.14A>T MANE Select | ENSP00000370395.4:p.Lys5Met |
| NM_019072.2:c.14A>T | NP_061945.1:p.Lys5Met |
| ENST00000381007.8:c.14A>T | ENSP00000370395.4:p.Lys5Met |
| ENST00000506816.1:c.14A>T | ENSP00000421447.1:p.Lys5Met |
| XM_005248548.2:c.14A>T | XP_005248605.1:p.Lys5Met |
| XM_005248548.3:c.14A>T | XP_005248605.1:p.Lys5Met |
| XM_017009597.1:c.-292A>T | XP_016865086.1:n.-292A>T |