gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.1588626C>G , CM000672.2:g.1588626C>G | GRCh38 |
| NC_000010.10:g.1630821C>G , CM000672.1:g.1630821C>G | GRCh37 |
| NC_000010.9:g.1620821C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381312.6:c.100+148425G>C MANE Select | ENSP00000370713.1:n.100+148425G>C | |
| ENST00000381312.5:c.100+148425G>C | ENSP00000370713.1:n.100+148425G>C | |
| NM_018702.3:c.100+148425G>C | NP_061172.1:n.100+148425G>C | |
| XR_930468.1:n.448+148425G>C | ||
| NM_018702.4:c.100+148425G>C MANE Select | NP_061172.1:n.100+148425G>C |