Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91949774G>A , CM000671.2:g.91949774G>A | GRCh38 |
| NC_000009.11:g.94712056G>A , CM000671.1:g.94712056G>A | GRCh37 |
| NC_000009.10:g.93751877G>A | NCBI36 |
| NG_008089.1:g.5389C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004560.4:c.97+93C>T MANE Select | NP_004551.2:n.97+93C>T |
| ENST00000375708.4:c.97+93C>T MANE Select | ENSP00000364860.3:n.97+93C>T |
| NM_001318204.1:c.97+93C>T | NP_001305133.1:n.97+93C>T |
| NM_001318204.2:c.97+93C>T | NP_001305133.1:n.97+93C>T |
| NM_004560.3:c.97+93C>T | NP_004551.2:n.97+93C>T |
| ENST00000375708.3:c.97+93C>T | ENSP00000364860.3:n.97+93C>T |
| ENST00000476440.1:n.40+93C>T | |
| XR_001746315.1:n.340+93C>T |