Linked Data
ClinVar Variation Id:
17110
ClinVar RCV Id:
RCV000018645
dbSNP Id:
rs121912955
gnomAD v4:
16-55491830-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55491830G>A , CM000678.2:g.55491830G>A | GRCh38 |
| NC_000016.9:g.55525742G>A , CM000678.1:g.55525742G>A | GRCh37 |
| NC_000016.8:g.54083243G>A | NCBI36 |
| NG_008989.1:g.17662G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219070.9:c.1210G>A MANE Select | ENSP00000219070.4:p.Glu404Lys | |
| ENST00000219070.8:c.1210G>A | ENSP00000219070.4:p.Glu404Lys | |
| ENST00000437642.6:c.1060G>A | ENSP00000394237.2:p.Glu354Lys | |
| ENST00000543485.5:c.982G>A | ENSP00000444143.1:p.Glu328Lys | |
| ENST00000570283.1:c.85G>A | ENSP00000456518.1:p.Glu29Lys | |
| ENST00000570308.5:c.982G>A | ENSP00000461421.1:p.Glu328Lys | |
| NM_001127891.2:c.1060G>A | NP_001121363.1:p.Glu354Lys | |
| NM_001302508.1:c.982G>A | NP_001289437.1:p.Glu328Lys | |
| NM_001302509.1:c.982G>A | NP_001289438.1:p.Glu328Lys | |
| NM_001302510.1:c.982G>A | NP_001289439.1:p.Glu328Lys | |
| NM_004530.5:c.1210G>A | NP_004521.1:p.Glu404Lys | |
| NM_004530.6:c.1210G>A MANE Select | NP_004521.1:p.Glu404Lys | |
| NM_001127891.3:c.1060G>A | NP_001121363.1:p.Glu354Lys | |
| NM_001302509.2:c.982G>A | NP_001289438.1:p.Glu328Lys | |
| NM_001302510.2:c.982G>A | NP_001289439.1:p.Glu328Lys |