Linked Data
ClinVar Variation Id:
716547
ClinVar RCV Id:
RCV000889214
dbSNP Id:
rs371192415
ExAC:
5:136974783 G / T
gnomAD v2:
5-136974783-G-T
gnomAD v3:
5-137639094-G-T
gnomAD v4:
5-137639094-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137639094G>T , CM000667.2:g.137639094G>T | GRCh38 |
| NC_000005.9:g.136974783G>T , CM000667.1:g.136974783G>T | GRCh37 |
| NC_000005.8:g.137002682G>T | NCBI36 |
| NG_032569.1:g.101997C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1078C>A MANE Select | ENSP00000312397.4:p.Arg360= | |
| ENST00000309755.8:c.1078C>A | ENSP00000312397.4:p.Arg360= | |
| ENST00000502381.1:n.665C>A | ||
| ENST00000504208.5:c.*335-10657C>A | ENSP00000423585.1:n.*335-10657C>A | |
| ENST00000505853.1:c.958C>A | ENSP00000426173.1:p.Arg320= | |
| ENST00000506491.5:c.832C>A | ENSP00000424828.1:p.Arg278= | |
| ENST00000506873.5:n.703C>A | ||
| ENST00000508657.5:c.982C>A | ENSP00000422099.1:p.Arg328= | |
| NM_001257194.1:c.982C>A | NP_001244123.1:p.Arg328= | |
| NM_001257195.1:c.832C>A | NP_001244124.1:p.Arg278= | |
| NM_017415.2:c.1078C>A | NP_059111.2:p.Arg360= | |
| NM_017415.3:c.1078C>A MANE Select | NP_059111.2:p.Arg360= | |
| NM_001257195.2:c.832C>A | NP_001244124.1:p.Arg278= |