Linked Data
ClinVar Variation Id:
7051
dbSNP Id:
rs137853060
ExAC:
6:162394435 T / A
gnomAD v2:
6-162394435-T-A
gnomAD v4:
6-161973403-T-A
PubMed:
PMID:15970950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161973403T>A , CM000668.2:g.161973403T>A | GRCh38 |
| NC_000006.11:g.162394435T>A , CM000668.1:g.162394435T>A | GRCh37 |
| NC_000006.10:g.162314425T>A | NCBI36 |
| NG_008289.1:g.759400A>T | |
| NG_008289.2:g.759400A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338468.8:c.511A>T | ENSP00000343589.4:n.511A>T | |
| ENST00000366894.6:c.392A>T | ENSP00000355860.2:n.392A>T | |
| ENST00000366898.6:c.633A>T MANE Select | ENSP00000355865.1:p.Lys211Asn | |
| ENST00000673871.1:c.628A>T | ||
| ENST00000674232.1:n.651A>T | ||
| ENST00000674436.1:n.269A>T | ||
| ENST00000674501.1:n.740A>T | ||
| ENST00000338468.7:c.60A>T | ENSP00000343589.3:p.Lys20Asn | |
| ENST00000366892.5:c.633A>T | ENSP00000355858.1:p.Lys211Asn | |
| ENST00000366894.5:c.60A>T | ENSP00000355860.1:p.Lys20Asn | |
| ENST00000366896.5:c.186A>T | ENSP00000355862.1:p.Lys62Asn | |
| ENST00000366897.5:c.549A>T | ENSP00000355863.1:p.Lys183Asn | |
| ENST00000366898.5:c.633A>T | ENSP00000355865.1:p.Lys211Asn | |
| ENST00000479615.5:c.396A>T | ENSP00000434414.1:p.Lys132Asn | |
| NM_004562.2:c.633A>T | NP_004553.2:p.Lys211Asn | |
| NM_013987.2:c.549A>T | NP_054642.2:p.Lys183Asn | |
| NM_013988.2:c.186A>T | NP_054643.2:p.Lys62Asn | |
| XM_011535863.1:c.630A>T | XP_011534165.1:p.Lys210Asn | |
| XM_011535864.1:c.633A>T | XP_011534166.1:p.Lys211Asn | |
| XM_011535865.1:c.633A>T | XP_011534167.1:p.Lys211Asn | |
| XM_011535866.1:c.633A>T | XP_011534168.1:p.Lys211Asn | |
| XM_011535867.1:c.633A>T | XP_011534169.1:p.Lys211Asn | |
| XM_017010908.1:c.747A>T | XP_016866397.1:p.Lys249Asn | |
| XM_017010909.2:c.393A>T | XP_016866398.1:p.Lys131Asn | |
| XM_024446449.1:c.396A>T | XP_024302217.1:p.Lys132Asn | |
| XR_001743443.2:n.739A>T | ||
| NM_004562.3:c.633A>T MANE Select | NP_004553.2:p.Lys211Asn | |
| NM_013987.3:c.549A>T | NP_054642.2:p.Lys183Asn | |
| NM_013988.3:c.186A>T | NP_054643.2:p.Lys62Asn |