Linked Data
ClinVar Variation Id:
130233
ClinVar RCV Id:
RCV000118269
RCV000289506
RCV000390854
RCV000351508
RCV000392527
RCV000811377
RCV003488392
dbSNP Id:
rs201916531
ExAC:
17:62022836 C / T
gnomAD v2:
17-62022836-C-T
gnomAD v3:
17-63945476-C-T
gnomAD v4:
17-63945476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63945476C>T , CM000679.2:g.63945476C>T | GRCh38 |
| NC_000017.10:g.62022836C>T , CM000679.1:g.62022836C>T | GRCh37 |
| NC_000017.9:g.59376568C>T | NCBI36 |
| NG_011699.1:g.32443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3604G>A MANE Select | ENSP00000396320.1:p.Glu1202Lys | |
| ENST00000578147.5:c.3604G>A | ENSP00000463963.1:p.Glu1202Lys | |
| NM_000334.4:c.3604G>A MANE Select | NP_000325.4:p.Glu1202Lys | |
| XM_005257566.3:c.3604G>A | XP_005257623.1:p.Glu1202Lys |