Linked Data
dbSNP Id:
rs1177559645
gnomAD v2:
X-602034-C-T
gnomAD v3:
X-641299-C-T
gnomAD v4:
X-641299-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.641299C>T , CM000685.2:g.641299C>T | GRCh38 |
| NC_000023.10:g.602034C>T , CM000685.1:g.602034C>T | GRCh37 |
| NC_000023.9:g.522034C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686671.1:c.633+212C>T MANE Select | ENSP00000508521.1:n.633+212C>T | |
| ENST00000334060.8:c.633+212C>T | ENSP00000335505.3:n.633+212C>T | |
| ENST00000381575.6:c.633+212C>T | ENSP00000370987.1:n.633+212C>T | |
| ENST00000381578.6:c.633+212C>T | ENSP00000370990.1:n.633+212C>T | |
| ENST00000554971.6:c.633+212C>T | ENSP00000452016.1:n.633+212C>T |