Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.86271915C>T , CM000671.2:g.86271915C>T | GRCh38 |
| NC_000009.11:g.88886830C>T , CM000671.1:g.88886830C>T | GRCh37 |
| NC_000009.10:g.88076650C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030940.4:c.241+92G>A MANE Select | NP_112202.2:n.241+92G>A |
| ENST00000375991.9:c.241+92G>A MANE Select | ENSP00000365159.4:n.241+92G>A |
| NM_030940.3:c.241+92G>A | NP_112202.2:n.241+92G>A |
| ENST00000311534.6:c.-54+92G>A | ENSP00000339003.4:n.-54+92G>A |
| ENST00000326094.4:c.241+92G>A | ENSP00000365157.1:n.241+92G>A |
| ENST00000375991.8:c.241+92G>A | ENSP00000365159.4:n.241+92G>A |
| ENST00000637705.1:c.178+92G>A | ENSP00000489740.1:n.178+92G>A |