gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74534921A>T , CM000671.2:g.74534921A>T | GRCh38 |
| NC_000009.11:g.77149837A>T , CM000671.1:g.77149837A>T | GRCh37 |
| NC_000009.10:g.76339657A>T | NCBI36 |
| NG_046926.2:g.42586A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376896.8:c.7+36938A>T MANE Select | ENSP00000366093.2:n.7+36938A>T | |
| ENST00000376896.7:c.7+36938A>T | ENSP00000366093.2:n.7+36938A>T | |
| NM_006914.3:c.7+36938A>T | NP_008845.2:n.7+36938A>T | |
| NM_006914.4:c.7+36938A>T MANE Select | NP_008845.2:n.7+36938A>T |