Linked Data
ClinVar Variation Id:
2485
ClinVar RCV Id:
RCV000002591
RCV000002590
RCV000415264
RCV000656975
RCV001079620
RCV001172848
RCV001293355
RCV001705579
RCV002345223
dbSNP Id:
rs80359890
ExAC:
5:148422281 A / G
gnomAD v2:
5-148422281-A-G
gnomAD v3:
5-149042718-A-G
gnomAD v4:
5-149042718-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149042718A>G , CM000667.2:g.149042718A>G | GRCh38 |
| NC_000005.9:g.148422281A>G , CM000667.1:g.148422281A>G | GRCh37 |
| NC_000005.8:g.148402474A>G | NCBI36 |
| NG_007947.2:g.25457T>C , LRG_269:g.25457T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.453T>C | ||
| ENST00000515425.6:c.505T>C MANE Select | ENSP00000423660.1:p.Tyr169His | |
| ENST00000674983.1:c.505T>C | ENSP00000502387.1:p.Tyr169His | |
| ENST00000675793.1:c.505T>C | ENSP00000502039.1:p.Tyr169His | |
| ENST00000676056.1:c.505T>C | ENSP00000501827.1:p.Tyr169His | |
| ENST00000676367.1:n.121T>C | ||
| ENST00000323829.9:c.505T>C | ENSP00000313025.5:p.Tyr169His | |
| ENST00000503071.1:n.30T>C | ||
| ENST00000504690.5:c.505T>C | ENSP00000425627.1:p.Tyr169His | |
| ENST00000511307.5:c.*285T>C | ENSP00000421420.1:n.*285T>C | |
| ENST00000512049.5:c.484T>C | ENSP00000421860.1:p.Tyr162His | |
| ENST00000513604.5:c.505T>C | ENSP00000423111.1:p.Tyr169His | |
| ENST00000515425.5:c.505T>C | ENSP00000423660.1:p.Tyr169His | |
| NM_024577.3:c.505T>C , LRG_269t1:c.505T>C | NP_078853.2:p.Tyr169His | |
| NM_024577.4:c.505T>C MANE Select | NP_078853.2:p.Tyr169His |