Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98282900G>T , CM000665.2:g.98282900G>T | GRCh38 |
| NC_000003.11:g.98001744G>T , CM000665.1:g.98001744G>T | GRCh37 |
| NC_000003.10:g.99484434G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355273.3:c.-3G>T MANE Select | ENSP00000347418.3:n.-3G>T | |
| ENST00000355273.2:c.13G>T | ENSP00000347418.2:p.Asp5Tyr | |
| NM_001005482.1:c.13G>T | NP_001005482.1:p.Asp5Tyr | |
| XR_924258.1:n.208-5425C>A | ||
| XR_924260.1:n.208-5425C>A | ||
| XR_001740814.1:n.71-3012C>A | ||
| XR_924258.2:n.216-5425C>A | ||
| XR_924259.2:n.71-3012C>A | ||
| NM_001005482.2:c.-3G>T MANE Select | NP_001005482.2:n.-3G>T |