Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188984742A>T , CM000664.2:g.188984742A>T | GRCh38 |
| NC_000002.11:g.189849468A>T , CM000664.1:g.189849468A>T | GRCh37 |
| NC_000002.10:g.189557713A>T | NCBI36 |
| NG_007404.1:g.15370A>T , LRG_3:g.15370A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.80-18A>T MANE Select | NP_000081.2:n.80-18A>T |
| ENST00000304636.9:c.80-18A>T MANE Select | ENSP00000304408.4:n.80-18A>T |
| NM_000090.3:c.80-18A>T , LRG_3t1:c.80-18A>T | NP_000081.1:n.80-18A>T |
| ENST00000304636.7:c.80-18A>T | ENSP00000304408.3:n.80-18A>T |
| ENST00000317840.9:c.80-18A>T | ENSP00000315243.6:n.80-18A>T |
| ENST00000450867.2:c.80-18A>T | ENSP00000415346.2:n.80-18A>T |
| ENST00000470167.1:n.176-18A>T | |
| XR_923687.1:n.12T>A | |
| XR_923688.1:n.12T>A | |
| XR_923689.1:n.58T>A | |
| XR_923689.3:n.53T>A |