Linked Data
ClinVar Variation Id:
1981060
ClinVar RCV Id:
RCV002780404
dbSNP Id:
rs148925842
ExAC:
6:107531710 T / G
gnomAD v2:
6-107531710-T-G
gnomAD v4:
6-107210506-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107210506T>G , CM000668.2:g.107210506T>G | GRCh38 |
| NC_000006.11:g.107531710T>G , CM000668.1:g.107531710T>G | GRCh37 |
| NC_000006.10:g.107638403T>G | NCBI36 |
| NG_013033.1:g.254070A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369037.9:c.941A>C MANE Select | ENSP00000358033.4:p.Asn314Thr | |
| ENST00000369037.8:c.941A>C | ENSP00000358033.4:p.Asn314Thr | |
| ENST00000449027.1:c.116A>C | ENSP00000392613.1:p.Asn39Thr | |
| NM_020381.3:c.941A>C | NP_065114.3:p.Asn314Thr | |
| XM_011535956.1:c.941A>C | XP_011534258.1:p.Asn314Thr | |
| XM_011535957.1:c.876+1603A>C | XP_011534259.1:n.876+1603A>C | |
| XM_011535958.1:c.806A>C | XP_011534260.1:p.Asn269Thr | |
| XM_011535959.1:c.876+1603A>C | XP_011534261.1:n.876+1603A>C | |
| XM_011535960.1:c.533A>C | XP_011534262.1:p.Asn178Thr | |
| XM_011535961.1:c.703-16652A>C | XP_011534263.1:n.703-16652A>C | |
| XM_011535962.1:c.533A>C | XP_011534264.1:p.Asn178Thr | |
| XM_011535956.3:c.941A>C | XP_011534258.1:p.Asn314Thr | |
| XM_011535957.3:c.876+1603A>C | XP_011534259.1:n.876+1603A>C | |
| XM_011535958.3:c.806A>C | XP_011534260.1:p.Asn269Thr | |
| XM_011535959.3:c.876+1603A>C | XP_011534261.1:n.876+1603A>C | |
| XM_011535960.3:c.533A>C | XP_011534262.1:p.Asn178Thr | |
| XM_011535961.3:c.703-16652A>C | XP_011534263.1:n.703-16652A>C | |
| XM_011535962.2:c.533A>C | XP_011534264.1:p.Asn178Thr | |
| XM_017011082.2:c.941A>C | XP_016866571.1:p.Asn314Thr | |
| NM_020381.4:c.941A>C MANE Select | NP_065114.3:p.Asn314Thr |