Linked Data
ClinVar Variation Id:
1491545
ClinVar RCV Id:
RCV002010096
dbSNP Id:
rs1354240252
gnomAD v2:
5-131705835-C-G
gnomAD v3:
5-132370143-C-G
gnomAD v4:
5-132370143-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132370143C>G , CM000667.2:g.132370143C>G | GRCh38 |
| NC_000005.9:g.131705835C>G , CM000667.1:g.131705835C>G | GRCh37 |
| NC_000005.8:g.131733734C>G | NCBI36 |
| NG_008982.1:g.5435C>G | |
| NG_008982.2:g.5440C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.171C>G | ENSP00000388838.2:p.Asn57Lys | |
| ENST00000435065.7:c.171C>G | ENSP00000402760.2:p.Asn57Lys | |
| ENST00000448810.6:c.171C>G | ENSP00000401860.2:p.Asn57Lys | |
| ENST00000686757.1:c.171C>G | ENSP00000510721.1:p.Asn57Lys | |
| ENST00000687740.1:n.305C>G | ||
| ENST00000689271.1:c.171C>G | ENSP00000510797.1:p.Asn57Lys | |
| ENST00000690900.1:c.171C>G | ENSP00000510703.1:p.Asn57Lys | |
| ENST00000692413.1:c.171C>G | ENSP00000509374.1:p.Asn57Lys | |
| ENST00000692825.1:c.171C>G | ENSP00000509447.1:p.Asn57Lys | |
| ENST00000693308.1:c.171C>G | ENSP00000509770.1:p.Asn57Lys | |
| ENST00000693763.1:n.305C>G | ||
| ENST00000245407.8:c.171C>G MANE Select | ENSP00000245407.3:p.Asn57Lys | |
| ENST00000245407.7:c.171C>G | ENSP00000245407.3:p.Asn57Lys | |
| ENST00000435065.6:c.171C>G | ENSP00000402760.2:p.Asn57Lys | |
| ENST00000437841.6:c.171C>G | ENSP00000400553.1:p.Asn57Lys | |
| NM_001308122.1:c.171C>G | NP_001295051.1:p.Asn57Lys | |
| NM_003060.3:c.171C>G | NP_003051.1:p.Asn57Lys | |
| XR_427718.1:n.440C>G | ||
| XR_948290.1:n.440C>G | ||
| XR_948291.1:n.440C>G | ||
| XM_011543590.2:c.-461C>G | XP_011541892.1:n.-461C>G | |
| XR_001742215.1:n.440C>G | ||
| XR_001742216.1:n.440C>G | ||
| XR_427718.2:n.440C>G | ||
| XR_948290.2:n.440C>G | ||
| XR_948291.2:n.440C>G | ||
| NM_003060.4:c.171C>G MANE Select | NP_003051.1:p.Asn57Lys | |
| NM_001308122.2:c.171C>G | NP_001295051.1:p.Asn57Lys |