Linked Data
ClinVar Variation Id:
783370
ClinVar RCV Id:
RCV000964906
dbSNP Id:
rs61757726
ExAC:
3:38052760 C / T
gnomAD v2:
3-38052760-C-T
gnomAD v3:
3-38011269-C-T
gnomAD v4:
3-38011269-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38011269C>T , CM000665.2:g.38011269C>T | GRCh38 |
| NC_000003.11:g.38052760C>T , CM000665.1:g.38052760C>T | GRCh37 |
| NC_000003.10:g.38027764C>T | NCBI36 |
| NG_031922.1:g.23395G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334661.5:c.735G>A MANE Select | ENSP00000335600.4:p.Ala245= | |
| ENST00000334661.4:c.735G>A | ENSP00000335600.4:p.Ala245= | |
| ENST00000461445.5:n.755G>A | ||
| ENST00000463876.5:c.798G>A | ENSP00000430344.1:p.Ala266= | |
| NM_001130964.1:c.798G>A | NP_001124436.1:p.Ala266= | |
| NM_006225.3:c.735G>A | NP_006216.2:p.Ala245= | |
| NR_024071.1:n.1152G>A | ||
| XM_017006622.1:c.561G>A | XP_016862111.1:p.Ala187= | |
| XR_001740173.2:n.941G>A | ||
| NM_001130964.2:c.798G>A | NP_001124436.1:p.Ala266= | |
| NM_006225.4:c.735G>A MANE Select | NP_006216.2:p.Ala245= | |
| NR_024071.2:n.885G>A |