Linked Data
ClinVar Variation Id:
804643
ClinVar RCV Id:
RCV000991717
dbSNP Id:
rs1599394696
gnomAD v4:
19-15192056-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192056C>T , CM000681.2:g.15192056C>T | GRCh38 |
| NC_000019.9:g.15302867C>T , CM000681.1:g.15302867C>T | GRCh37 |
| NC_000019.8:g.15163867C>T | NCBI36 |
| NG_009819.1:g.13926G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.583G>A MANE Select | ENSP00000263388.1:p.Glu195Lys | |
| ENST00000263388.6:c.583G>A | ENSP00000263388.1:p.Glu195Lys | |
| ENST00000601011.1:c.580G>A | ENSP00000473138.1:p.Glu194Lys | |
| NM_000435.2:c.583G>A | NP_000426.2:p.Glu195Lys | |
| XM_005259924.3:c.583G>A | XP_005259981.1:p.Glu195Lys | |
| XM_005259924.4:c.583G>A | XP_005259981.1:p.Glu195Lys | |
| NM_000435.3:c.583G>A MANE Select | NP_000426.2:p.Glu195Lys |