Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14747138C>T , CM000667.2:g.14747138C>T | GRCh38 |
| NC_000005.9:g.14747247C>T , CM000667.1:g.14747247C>T | GRCh37 |
| NC_000005.8:g.14800247C>T | NCBI36 |
| NG_008273.1:g.129641G>A | |
| NG_008273.2:g.129648G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_054027.6:c.823-1176G>A MANE Select | NP_473368.1:n.823-1176G>A |
| ENST00000284268.8:c.823-1176G>A MANE Select | ENSP00000284268.6:n.823-1176G>A |
| NM_054027.4:c.823-1176G>A | NP_473368.1:n.823-1176G>A |
| NM_054027.5:c.823-1176G>A | NP_473368.1:n.823-1176G>A |
| ENST00000284268.6:c.823-1176G>A | ENSP00000284268.6:n.823-1176G>A |
| ENST00000503939.5:n.335-1176G>A | |
| ENST00000515517.1:n.57-1176G>A | |
| XM_011514067.1:c.823-1176G>A | XP_011512369.1:n.823-1176G>A |
| XM_017009644.2:c.739-1176G>A | XP_016865133.1:n.739-1176G>A |