Linked Data
ClinVar Variation Id:
257135
ClinVar RCV Id:
RCV000242243
dbSNP Id:
rs143820600
ExAC:
14:65220374 G / T
gnomAD v2:
14-65220374-G-T
gnomAD v3:
14-64753656-G-T
gnomAD v4:
14-64753656-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64753656G>T , CM000676.2:g.64753656G>T | GRCh38 |
| NC_000014.8:g.65220374G>T , CM000676.1:g.65220374G>T | GRCh37 |
| NC_000014.7:g.64290127G>T | NCBI36 |
| NG_016202.1:g.74493C>A | |
| NG_016202.2:g.131237C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342835.9:n.220C>A | ||
| ENST00000644917.1:c.6483C>A MANE Select | ENSP00000495909.1:p.Ser2161Arg | |
| ENST00000342835.8:n.220C>A | ||
| ENST00000389722.7:c.6483C>A | ENSP00000374372.3:p.Ser2161Arg | |
| ENST00000553938.5:c.2478C>A | ENSP00000451324.1:p.Ser826Arg | |
| ENST00000556227.1:n.3886C>A | ||
| ENST00000556626.5:c.6483C>A | ENSP00000451752.1:p.Ser2161Arg | |
| NM_001024858.2:c.6483C>A | NP_001020029.1:p.Ser2161Arg | |
| XM_005268023.3:c.6483C>A | XP_005268080.1:p.Ser2161Arg | |
| NM_001024858.3:c.6483C>A | NP_001020029.1:p.Ser2161Arg | |
| NM_001355436.2:c.6483C>A MANE Select | NP_001342365.1:p.Ser2161Arg | |
| XM_017021612.2:c.6483C>A | XP_016877101.1:p.Ser2161Arg | |
| XM_024449699.1:c.6483C>A | XP_024305467.1:p.Ser2161Arg | |
| NM_001024858.4:c.6483C>A | NP_001020029.1:p.Ser2161Arg |