Linked Data
ClinVar Variation Id:
285067
dbSNP Id:
rs199719668
gnomAD v2:
14-77778330-G-A
gnomAD v3:
14-77311987-G-A
gnomAD v4:
14-77311987-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77311987G>A , CM000676.2:g.77311987G>A | GRCh38 |
| NC_000014.8:g.77778330G>A , CM000676.1:g.77778330G>A | GRCh37 |
| NC_000014.7:g.76848083G>A | NCBI36 |
| NG_008897.1:g.13896C>T , LRG_844:g.13896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.249-7187C>T | ENSP00000451967.2:n.249-7187C>T | |
| ENST00000682247.1:c.295C>T | ENSP00000507213.1:p.Arg99Cys | |
| ENST00000682382.1:c.243C>T | ||
| ENST00000682467.1:c.295C>T | ENSP00000508062.1:p.Arg99Cys | |
| ENST00000682795.1:c.295C>T | ENSP00000507574.1:p.Arg99Cys | |
| ENST00000683188.1:c.90C>T | ||
| ENST00000683828.1:c.164C>T | ||
| ENST00000684102.1:n.41C>T | ||
| ENST00000684259.1:n.146C>T | ||
| ENST00000684344.1:c.*115C>T | ENSP00000507432.1:n.*115C>T | |
| ENST00000684600.1:c.47C>T | ||
| ENST00000261534.9:c.295C>T MANE Select | ENSP00000261534.4:p.Arg99Cys | |
| ENST00000261534.8:c.295C>T | ENSP00000261534.4:p.Arg99Cys | |
| ENST00000452340.7:n.318C>T | ||
| ENST00000554948.1:c.22C>T | ENSP00000452060.1:p.Arg8Cys | |
| ENST00000555788.5:n.129C>T | ||
| ENST00000556326.5:c.249-5546C>T | ENSP00000450630.1:n.249-5546C>T | |
| ENST00000557525.1:n.385C>T | ||
| NM_013382.5:c.295C>T , LRG_844t1:c.295C>T | NP_037514.2:p.Arg99Cys | |
| XM_011536675.1:c.295C>T | XP_011534977.1:p.Arg99Cys | |
| XM_011536676.1:c.1-5546C>T | XP_011534978.1:n.1-5546C>T | |
| XM_011536677.1:c.295C>T | XP_011534979.1:p.Arg99Cys | |
| XM_011536678.1:c.295C>T | XP_011534980.1:p.Arg99Cys | |
| XM_011536680.1:c.295C>T | XP_011534982.1:p.Arg99Cys | |
| XR_943416.1:n.498C>T | ||
| XM_011536675.2:c.295C>T | XP_011534977.1:p.Arg99Cys | |
| XM_011536676.2:c.1-5546C>T | XP_011534978.1:n.1-5546C>T | |
| XM_011536677.3:c.295C>T | XP_011534979.1:p.Arg99Cys | |
| XR_001750279.1:n.495C>T | ||
| XR_001750282.1:n.499C>T | ||
| XR_943416.3:n.496C>T | ||
| NM_013382.6:c.295C>T | NP_037514.2:p.Arg99Cys | |
| NM_013382.7:c.295C>T MANE Select | NP_037514.2:p.Arg99Cys |