Linked Data
dbSNP Id:
rs778987310
ExAC:
17:61564001 C / A
gnomAD v2:
17-61564001-C-A
gnomAD v4:
17-63486640-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63486640C>A , CM000679.2:g.63486640C>A | GRCh38 |
| NC_000017.10:g.61564001C>A , CM000679.1:g.61564001C>A | GRCh37 |
| NC_000017.9:g.58917733C>A | NCBI36 |
| NG_011648.1:g.14568C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2142C>A MANE Select | ENSP00000290866.4:p.Asn714Lys | |
| ENST00000290863.10:c.420C>A | ENSP00000290863.6:p.Asn140Lys | |
| ENST00000290866.9:c.2142C>A | ENSP00000290866.4:p.Asn714Lys | |
| ENST00000413513.7:c.420C>A | ENSP00000392247.3:p.Asn140Lys | |
| ENST00000428043.5:c.2142C>A | ENSP00000397593.2:p.Asn714Lys | |
| ENST00000577647.2:c.420C>A | ENSP00000464149.1:p.Asn140Lys | |
| ENST00000578839.5:c.*212C>A | ENSP00000462110.2:n.*212C>A | |
| ENST00000579204.1:c.323C>A | ENSP00000464629.1:n.323C>A | |
| ENST00000579314.5:c.420C>A | ENSP00000462599.1:p.Asn140Lys | |
| ENST00000579726.5:c.704C>A | ||
| ENST00000582005.5:c.*62C>A | ENSP00000462002.1:n.*62C>A | |
| NM_000789.3:c.2142C>A | NP_000780.1:p.Asn714Lys | |
| NM_001178057.1:c.420C>A | NP_001171528.1:p.Asn140Lys | |
| NM_152830.2:c.420C>A | NP_690043.1:p.Asn140Lys | |
| XM_005257110.1:c.1593C>A | XP_005257167.1:p.Asn531Lys | |
| XM_006721737.2:c.480C>A | XP_006721800.2:p.Asn160Lys | |
| XM_006721737.3:c.480C>A | XP_006721800.2:p.Asn160Lys | |
| NM_000789.4:c.2142C>A MANE Select | NP_000780.1:p.Asn714Lys | |
| NM_001178057.2:c.420C>A | NP_001171528.1:p.Asn140Lys | |
| NM_152830.3:c.420C>A | NP_690043.1:p.Asn140Lys | |
| NM_001382700.1:c.1575C>A | NP_001369629.1:p.Asn525Lys | |
| NM_001382701.1:c.1290C>A | NP_001369630.1:p.Asn430Lys | |
| NM_001382702.1:c.72C>A | NP_001369631.1:p.Asn24Lys | |
| NR_168483.1:n.442C>A |