gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101727085C>A , CM000671.2:g.101727085C>A | GRCh38 |
| NC_000009.11:g.104489367C>A , CM000671.1:g.104489367C>A | GRCh37 |
| NC_000009.10:g.103529188C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361820.6:c.699+10196G>T MANE Select | ENSP00000355155.3:n.699+10196G>T | |
| ENST00000361820.3:c.699+10196G>T | ENSP00000355155.3:n.699+10196G>T | |
| NM_133445.2:c.699+10196G>T | NP_597702.2:n.699+10196G>T | |
| XM_011518211.1:c.699+10196G>T | XP_011516513.1:n.699+10196G>T | |
| XM_011518212.1:c.699+10196G>T | XP_011516514.1:n.699+10196G>T | |
| XR_929711.1:n.786+10196G>T | ||
| XM_011518211.2:c.699+10196G>T | XP_011516513.1:n.699+10196G>T | |
| NM_133445.3:c.699+10196G>T MANE Select | NP_597702.2:n.699+10196G>T |