Linked Data
ClinVar Variation Id:
324537
ClinVar RCV Id:
RCV000263270
RCV000298352
RCV000299745
RCV000391174
RCV000416101
RCV000576587
RCV001086523
RCV004537819
dbSNP Id:
rs187401185
ExAC:
17:62038602 T / C
gnomAD v2:
17-62038602-T-C
gnomAD v3:
17-63961242-T-C
gnomAD v4:
17-63961242-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63961242T>C , CM000679.2:g.63961242T>C | GRCh38 |
| NC_000017.10:g.62038602T>C , CM000679.1:g.62038602T>C | GRCh37 |
| NC_000017.9:g.59392334T>C | NCBI36 |
| NG_011699.1:g.16677A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1796A>G MANE Select | ENSP00000396320.1:p.His599Arg | |
| ENST00000578147.5:c.1796A>G | ENSP00000463963.1:p.His599Arg | |
| ENST00000581514.1:n.452A>G | ||
| NM_000334.4:c.1796A>G MANE Select | NP_000325.4:p.His599Arg | |
| XM_005257566.3:c.1796A>G | XP_005257623.1:p.His599Arg | |
| XR_934910.1:n.124+520T>C | ||
| XR_001752969.1:n.1276+520T>C | ||
| XR_934910.2:n.1276+520T>C |