Linked Data
ClinVar Variation Id:
291141
ClinVar RCV Id:
RCV000303562
dbSNP Id:
rs886044667
gnomAD v2:
16-21739693-C-A
gnomAD v4:
16-21728372-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21728372C>A , CM000678.2:g.21728372C>A | GRCh38 |
| NC_000016.9:g.21739693C>A , CM000678.1:g.21739693C>A | GRCh37 |
| NC_000016.8:g.21647194C>A | NCBI36 |
| NG_012973.1:g.54859C>A | |
| NG_012973.2:g.69240C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388958.8:c.2148C>A | ENSP00000373610.3:p.Cys716Ter | |
| ENST00000646100.2:c.2148C>A MANE Select | ENSP00000496564.2:p.Cys716Ter | |
| ENST00000647277.1:c.*962C>A | ENSP00000495594.1:n.*962C>A | |
| ENST00000286149.8:c.2190C>A | ENSP00000286149.4:p.Cys730Ter | |
| ENST00000388956.8:c.1911C>A | ENSP00000373608.4:p.Cys637Ter | |
| ENST00000388957.3:c.1176C>A | ENSP00000373609.3:p.Cys392Ter | |
| ENST00000388958.7:c.2148C>A | ENSP00000373610.3:p.Cys716Ter | |
| ENST00000563871.5:n.1611C>A | ||
| NM_001161683.1:c.1911C>A | NP_001155155.1:p.Cys637Ter | |
| NM_144672.3:c.2148C>A | NP_653273.3:p.Cys716Ter | |
| NM_170664.2:c.1176C>A | NP_733764.1:p.Cys392Ter | |
| XM_011545747.1:c.2148C>A | XP_011544049.1:p.Cys716Ter | |
| XM_011545748.1:c.1017C>A | XP_011544050.1:p.Cys339Ter | |
| NM_144672.4:c.2148C>A MANE Select | NP_653273.3:p.Cys716Ter | |
| XM_011545748.2:c.1017C>A | XP_011544050.2:p.Cys339Ter | |
| XM_017022951.1:c.414C>A | XP_016878440.1:p.Cys138Ter | |
| XR_002957775.1:n.1243C>A | ||
| NM_001161683.2:c.1911C>A | NP_001155155.1:p.Cys637Ter | |
| NM_170664.3:c.1176C>A | NP_733764.1:p.Cys392Ter |