Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.81235045C>T , CM000685.2:g.81235045C>T | GRCh38 |
| NC_000023.10:g.80490544C>T , CM000685.1:g.80490544C>T | GRCh37 |
| NC_000023.9:g.80377200C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373212.6:c.45+32800C>T MANE Select | ENSP00000362308.5:n.45+32800C>T | |
| ENST00000373212.5:c.45+32800C>T | ENSP00000362308.5:n.45+32800C>T | |
| ENST00000463546.5:n.91+32325C>T | ||
| ENST00000481106.5:n.258+32469C>T | ||
| NM_003022.2:c.45+32800C>T | NP_003013.1:n.45+32800C>T | |
| XM_011531014.1:c.-7-2073C>T | XP_011529316.1:n.-7-2073C>T | |
| NM_003022.3:c.45+32800C>T MANE Select | NP_003013.1:n.45+32800C>T |