Linked Data
ClinVar Variation Id:
3124121
ClinVar RCV Id:
RCV004418997
dbSNP Id:
rs748238566
gnomAD v3:
19-54178861-C-T
gnomAD v4:
19-54178861-C-T
COSMIC:
COSM4081213
MyVariant Identifiers:
chr19:g.54178861C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54178861C>T , CM000681.2:g.54178861C>T | GRCh38 |
| NC_000019.8:g.59374390C>T | NCBI36 |
| NG_033045.2:g.16015G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245615.6:c.935G>A MANE Select | ENSP00000245615.1:p.Arg312Gln | |
| ENST00000245615.5:c.935G>A | ENSP00000245615.1:p.Arg312Gln | |
| ENST00000338624.10:c.716G>A | ENSP00000344377.5:p.Arg239Gln | |
| ENST00000391754.5:c.935G>A | ENSP00000375634.1:p.Arg312Gln | |
| ENST00000431666.6:c.716G>A | ENSP00000410503.2:p.Arg239Gln | |
| ENST00000437868.5:c.*595G>A | ENSP00000404915.1:n.*595G>A | |
| ENST00000449249.5:c.350-4430G>A | ENSP00000406794.1:n.350-4430G>A | |
| ENST00000494142.1:n.1930G>A | ||
| NM_001146056.2:c.716G>A | NP_001139528.1:p.Arg239Gln | |
| NM_001146082.2:c.935G>A | NP_001139554.1:p.Arg312Gln | |
| NM_001146083.2:c.716G>A | NP_001139555.1:p.Arg239Gln | |
| NM_024298.4:c.935G>A | NP_077274.3:p.Arg312Gln | |
| XM_011527299.1:c.935G>A | XP_011525601.1:p.Arg312Gln | |
| XM_011527300.1:c.935G>A | XP_011525602.1:p.Arg312Gln | |
| XM_011527299.3:c.935G>A | XP_011525601.1:p.Arg312Gln | |
| XM_011527300.2:c.935G>A | XP_011525602.1:p.Arg312Gln | |
| XM_017027296.2:c.935G>A | XP_016882785.1:p.Arg312Gln | |
| NM_024298.5:c.935G>A MANE Select | NP_077274.3:p.Arg312Gln | |
| NM_001146056.3:c.716G>A | NP_001139528.1:p.Arg239Gln | |
| NM_001146082.3:c.935G>A | NP_001139554.1:p.Arg312Gln | |
| NM_001146083.3:c.716G>A | NP_001139555.1:p.Arg239Gln |