Linked Data
ClinVar Variation Id:
7522
ClinVar RCV Id:
RCV000007956
dbSNP Id:
rs104894560
gnomAD v2:
17-14005547-C-A
gnomAD v4:
17-14102230-C-A
PubMed:
PMID:10767350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14102230C>A , CM000679.2:g.14102230C>A | GRCh38 |
| NC_000017.10:g.14005547C>A , CM000679.1:g.14005547C>A | GRCh37 |
| NC_000017.9:g.13946272C>A | NCBI36 |
| NG_008034.1:g.37829C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261643.8:c.612C>A MANE Select | ENSP00000261643.3:p.Asn204Lys | |
| ENST00000664217.1:c.612C>A | ENSP00000499396.1:p.Asn204Lys | |
| ENST00000670279.1:c.612C>A | ENSP00000499450.1:p.Asn204Lys | |
| ENST00000261643.7:c.612C>A | ENSP00000261643.3:p.Asn204Lys | |
| ENST00000580561.1:c.*101C>A | ENSP00000462190.1:n.*101C>A | |
| ENST00000581931.5:c.499+25174C>A | ENSP00000462512.1:n.499+25174C>A | |
| NM_001303.3:c.612C>A | NP_001294.2:p.Asn204Lys | |
| XM_005256458.1:c.612C>A | XP_005256515.1:p.Asn204Lys | |
| XM_011523657.1:c.612C>A | XP_011521959.1:p.Asn204Lys | |
| XM_011523658.1:c.48+25174C>A | XP_011521960.1:n.48+25174C>A | |
| XR_933974.1:n.715C>A | ||
| XR_933975.1:n.715C>A | ||
| NM_001303.4:c.612C>A MANE Select | NP_001294.2:p.Asn204Lys |