Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50201513T>A , CM000679.2:g.50201513T>A | GRCh38 |
| NC_000017.10:g.48278874T>A , CM000679.1:g.48278874T>A | GRCh37 |
| NC_000017.9:g.45633873T>A | NCBI36 |
| NG_007400.1:g.5127A>T , LRG_1:g.5127A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000088.4:c.1A>T MANE Select | NP_000079.2:p.Met1Leu |
| ENST00000225964.10:c.1A>T MANE Select | ENSP00000225964.6:p.Met1Leu |
| NM_000088.3:c.1A>T , LRG_1t1:c.1A>T | NP_000079.2:p.Met1Leu |
| ENST00000225964.9:c.1A>T | ENSP00000225964.5:p.Met1Leu |
| ENST00000474644.1:n.120A>T | |
| XM_005257058.3:c.1A>T | XP_005257115.2:p.Met1Leu |
| XM_005257058.4:c.1A>T | XP_005257115.2:p.Met1Leu |
| XM_005257059.3:c.1A>T | XP_005257116.2:p.Met1Leu |
| XM_005257059.4:c.1A>T | XP_005257116.2:p.Met1Leu |
| XM_011524341.1:c.1A>T | XP_011522643.1:p.Met1Leu |