Linked Data
ClinVar Variation Id:
130227
ClinVar RCV Id:
RCV000118263
RCV000264383
RCV000318249
RCV000321996
RCV000378890
RCV000540577
RCV000576684
dbSNP Id:
rs16947296
ExAC:
17:62043537 A / G
gnomAD v2:
17-62043537-A-G
gnomAD v3:
17-63966177-A-G
gnomAD v4:
17-63966177-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63966177A>G , CM000679.2:g.63966177A>G | GRCh38 |
| NC_000017.10:g.62043537A>G , CM000679.1:g.62043537A>G | GRCh37 |
| NC_000017.9:g.59397269A>G | NCBI36 |
| NG_011699.1:g.11742T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435607.3:c.1167T>C MANE Select | ENSP00000396320.1:p.Tyr389= | |
| ENST00000578147.5:c.1167T>C | ENSP00000463963.1:p.Tyr389= | |
| NM_000334.4:c.1167T>C MANE Select | NP_000325.4:p.Tyr389= | |
| XM_005257566.3:c.1167T>C | XP_005257623.1:p.Tyr389= | |
| XR_934910.1:n.277-328A>G | ||
| XR_001752969.1:n.1554-328A>G | ||
| XR_001752970.1:n.506-328A>G | ||
| XR_934910.2:n.1429-328A>G |