Linked Data
ClinVar Variation Id:
3018095
ClinVar RCV Id:
RCV003876758
dbSNP Id:
rs895305285
gnomAD v2:
5-14716915-G-A
gnomAD v3:
5-14716806-G-A
gnomAD v4:
5-14716806-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716806G>A , CM000667.2:g.14716806G>A | GRCh38 |
| NC_000005.9:g.14716915G>A , CM000667.1:g.14716915G>A | GRCh37 |
| NC_000005.8:g.14769915G>A | NCBI36 |
| NG_008273.1:g.159973C>T | |
| NG_008273.2:g.159980C>T | |
| NG_051625.1:g.61013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1041C>T MANE Select | ENSP00000284268.6:p.Asn347= | |
| ENST00000284268.6:c.1041C>T | ENSP00000284268.6:p.Asn347= | |
| ENST00000502585.1:n.283C>T | ||
| NM_054027.4:c.1041C>T | NP_473368.1:p.Asn347= | |
| NM_054027.5:c.1041C>T | NP_473368.1:p.Asn347= | |
| XM_017009644.2:c.957C>T | XP_016865133.1:p.Asn319= | |
| NM_054027.6:c.1041C>T MANE Select | NP_473368.1:p.Asn347= |