Linked Data
ClinVar Variation Id:
493270
dbSNP Id:
rs1555792445
MyVariant Identifiers:
chr19:g.54122594G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54122594G>C , CM000681.2:g.54122594G>C | GRCh38 |
| NC_000019.8:g.59317785G>C | NCBI36 |
| NG_009759.1:g.12184G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321030.9:c.420G>C MANE Select | ENSP00000324122.4:p.Lys140Asn | |
| ENST00000321030.8:c.420G>C | ENSP00000324122.4:p.Lys140Asn | |
| ENST00000391755.1:c.420G>C | ENSP00000375635.1:p.Lys140Asn | |
| ENST00000419967.5:c.420G>C | ENSP00000405166.2:p.Lys140Asn | |
| ENST00000445124.5:c.420G>C | ENSP00000408980.1:p.Lys140Asn | |
| ENST00000445811.5:c.420G>C | ENSP00000395894.1:p.Lys140Asn | |
| ENST00000447810.5:c.420G>C | ENSP00000395089.1:p.Lys140Asn | |
| ENST00000466404.5:n.290G>C | ||
| ENST00000498612.1:n.203G>C | ||
| NM_015629.3:c.420G>C | NP_056444.3:p.Lys140Asn | |
| XM_006723137.2:c.420G>C | XP_006723200.1:p.Lys140Asn | |
| XR_935789.1:n.469G>C | ||
| XM_006723137.4:c.420G>C | XP_006723200.1:p.Lys140Asn | |
| XR_002958293.1:n.550G>C | ||
| XR_935789.3:n.481G>C | ||
| NM_015629.4:c.420G>C MANE Select | NP_056444.3:p.Lys140Asn |