Linked Data
ClinVar Variation Id:
3061011
ClinVar RCV Id:
RCV003982523
dbSNP Id:
rs4306647
gnomAD v3:
19-54982789-G-A
gnomAD v4:
19-54982789-G-A
MyVariant Identifiers:
chr19:g.54982789G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54982789G>A , CM000681.2:g.54982789G>A | GRCh38 |
| NC_000019.8:g.60185969G>A | NCBI36 |
| NG_052633.1:g.34660G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448584.7:c.1091G>A MANE Select | ENSP00000409370.2:p.Arg364Lys | |
| ENST00000263437.10:c.1082G>A | ENSP00000263437.6:p.Arg361Lys | |
| ENST00000339757.11:c.1025G>A | ENSP00000344074.7:p.Arg342Lys | |
| ENST00000391721.8:c.1019G>A | ENSP00000375601.4:p.Arg340Lys | |
| ENST00000427260.6:c.1022G>A | ENSP00000402474.2:p.Arg341Lys | |
| ENST00000448584.6:c.1091G>A | ENSP00000409370.2:p.Arg364Lys | |
| ENST00000537859.5:c.1025G>A | ENSP00000440601.1:p.Arg342Lys | |
| ENST00000540597.5:n.1201G>A | ||
| ENST00000543010.5:c.1091G>A | ENSP00000445135.1:p.Arg364Lys | |
| NM_001174081.1:c.1091G>A | NP_001167552.1:p.Arg364Lys | |
| NM_001174082.1:c.1025G>A | NP_001167553.1:p.Arg342Lys | |
| NM_001174083.1:c.1022G>A | NP_001167554.1:p.Arg341Lys | |
| NM_017852.3:c.1091G>A | NP_060322.1:p.Arg364Lys | |
| NM_001174081.2:c.1091G>A | NP_001167552.1:p.Arg364Lys | |
| NM_001174082.2:c.1025G>A | NP_001167553.1:p.Arg342Lys | |
| NM_001348003.1:c.1082G>A | NP_001334932.1:p.Arg361Lys | |
| NM_017852.4:c.1091G>A | NP_060322.1:p.Arg364Lys | |
| NR_145325.1:n.1234G>A | ||
| NM_017852.5:c.1091G>A MANE Select | NP_060322.1:p.Arg364Lys | |
| NM_001174081.3:c.1091G>A | NP_001167552.1:p.Arg364Lys | |
| NM_001174083.2:c.1022G>A | NP_001167554.1:p.Arg341Lys | |
| NM_001348003.2:c.1082G>A | NP_001334932.1:p.Arg361Lys | |
| NR_145325.2:n.1202G>A | ||
| NM_001174082.3:c.1025G>A | NP_001167553.1:p.Arg342Lys |