Linked Data
ClinVar Variation Id:
338323
ClinVar RCV Id:
RCV000269019
RCV000276931
RCV000307820
RCV000369568
RCV000365864
RCV001865232
RCV002523159
dbSNP Id:
rs199666386
ExAC:
20:34025541 G / T
gnomAD v2:
20-34025541-G-T
gnomAD v3:
20-35437761-G-T
gnomAD v4:
20-35437761-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35437761G>T , CM000682.2:g.35437761G>T | GRCh38 |
| NC_000020.10:g.34025541G>T , CM000682.1:g.34025541G>T | GRCh37 |
| NC_000020.9:g.33488955G>T | NCBI36 |
| NG_008076.2:g.5459C>A | |
| NG_008076.3:g.21986C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374369.8:c.168C>A MANE Select | ENSP00000363489.3:p.Asn56Lys | |
| ENST00000374369.7:c.168C>A | ENSP00000363489.3:p.Asn56Lys | |
| ENST00000374372.1:c.168C>A | ENSP00000363492.1:p.Asn56Lys | |
| NM_000557.4:c.168C>A | NP_000548.2:p.Asn56Lys | |
| XM_011529075.1:c.168C>A | XP_011527377.1:p.Asn56Lys | |
| XM_011529076.1:c.168C>A | XP_011527378.1:p.Asn56Lys | |
| NM_001319138.1:c.168C>A | NP_001306067.1:p.Asn56Lys | |
| NM_000557.5:c.168C>A MANE Select | NP_000548.2:p.Asn56Lys | |
| NM_001319138.2:c.168C>A | NP_001306067.1:p.Asn56Lys |