Linked Data
ClinVar Variation Id:
254104
ClinVar RCV Id:
RCV000240321
dbSNP Id:
rs181590179
ExAC:
16:418381 C / T
gnomAD v2:
16-418381-C-T
gnomAD v3:
16-368381-C-T
gnomAD v4:
16-368381-C-T
PubMed:
PMID:28299356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.368381C>T , CM000678.2:g.368381C>T | GRCh38 |
| NC_000016.9:g.418381C>T , CM000678.1:g.418381C>T | GRCh37 |
| NC_000016.8:g.358382C>T | NCBI36 |
| NG_052909.1:g.7189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199706.13:c.610G>A MANE Select | ENSP00000199706.7:p.Val204Met | |
| ENST00000648346.1:c.610G>A | ENSP00000497004.1:p.Val204Met | |
| ENST00000199706.12:c.610G>A | ENSP00000199706.7:p.Val204Met | |
| ENST00000389675.6:c.610G>A | ENSP00000374326.2:p.Val204Met | |
| ENST00000429738.1:c.62-886G>A | ENSP00000414038.1:n.62-886G>A | |
| ENST00000441883.5:c.610G>A | ENSP00000398684.1:p.Val204Met | |
| ENST00000447696.5:c.610G>A | ENSP00000390399.1:p.Val204Met | |
| ENST00000461550.5:n.1040G>A | ||
| ENST00000469744.1:n.1058G>A | ||
| ENST00000481453.5:n.1787G>A | ||
| ENST00000483764.5:n.1060G>A | ||
| NM_006428.4:c.610G>A | NP_006419.2:p.Val204Met | |
| XM_005255041.1:c.610G>A | XP_005255098.1:p.Val204Met | |
| XM_011522351.1:c.610G>A | XP_011520653.1:p.Val204Met | |
| XM_005255041.2:c.610G>A | XP_005255098.1:p.Val204Met | |
| XM_011522351.2:c.610G>A | XP_011520653.1:p.Val204Met | |
| NM_006428.5:c.610G>A MANE Select | NP_006419.2:p.Val204Met |