Linked Data
ClinVar Variation Id:
324519
ClinVar RCV Id:
RCV000288438
RCV000292167
RCV000352745
RCV000382835
RCV000388694
RCV003137926
RCV003352836
dbSNP Id:
rs368822028
ExAC:
17:62020192 T / C
gnomAD v2:
17-62020192-T-C
gnomAD v3:
17-63942832-T-C
gnomAD v4:
17-63942832-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63942832T>C , CM000679.2:g.63942832T>C | GRCh38 |
| NC_000017.10:g.62020192T>C , CM000679.1:g.62020192T>C | GRCh37 |
| NC_000017.9:g.59373924T>C | NCBI36 |
| NG_011699.1:g.35087A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4282A>G MANE Select | ENSP00000396320.1:p.Ile1428Val | |
| ENST00000578147.5:c.4282A>G | ENSP00000463963.1:p.Ile1428Val | |
| NM_000334.4:c.4282A>G MANE Select | NP_000325.4:p.Ile1428Val | |
| XM_005257566.3:c.4282A>G | XP_005257623.1:p.Ile1428Val |