Linked Data
ClinVar Variation Id:
206528
ClinVar RCV Id:
RCV000188581
RCV000633537
RCV000762953
RCV001847829
RCV001252349
RCV002517007
RCV004526636
dbSNP Id:
rs144500145
ExAC:
15:89865011 G / A
gnomAD v2:
15-89865011-G-A
gnomAD v3:
15-89321780-G-A
gnomAD v4:
15-89321780-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321780G>A , CM000677.2:g.89321780G>A | GRCh38 |
| NC_000015.9:g.89865011G>A , CM000677.1:g.89865011G>A | GRCh37 |
| NC_000015.8:g.87666015G>A | NCBI36 |
| NG_008218.1:g.18016C>T | |
| NG_008218.2:g.18016C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2554C>T | ENSP00000516154.1:p.Arg852Cys | |
| ENST00000268124.11:c.2554C>T MANE Select | ENSP00000268124.5:p.Arg852Cys | |
| ENST00000530292.3:c.2155C>T | ENSP00000432885.2:p.Arg719Cys | |
| ENST00000635986.2:c.2554C>T | ENSP00000490653.2:p.Arg852Cys | |
| ENST00000636774.1:c.*1121C>T | ENSP00000489799.1:n.*1121C>T | |
| ENST00000637238.1:c.1251C>T | ENSP00000490756.1:n.1251C>T | |
| ENST00000637264.1:c.1626C>T | ||
| ENST00000666746.1:c.2131C>T | ||
| ENST00000670281.1:c.800+182C>T | ENSP00000499709.1:n.800+182C>T | |
| ENST00000672071.1:n.2752C>T | ||
| ENST00000672923.2:n.2496C>T | ||
| ENST00000268124.9:c.2554C>T | ENSP00000268124.5:p.Arg852Cys | |
| ENST00000442287.6:c.2554C>T | ENSP00000399851.2:p.Arg852Cys | |
| ENST00000528881.2:c.196-520C>T | ||
| ENST00000530715.5:c.186-911C>T | ENSP00000431395.1:n.186-911C>T | |
| ENST00000532584.5:n.703C>T | ||
| ENST00000631044.2:c.*1978C>T | ENSP00000486730.1:n.*1978C>T | |
| NM_001126131.1:c.2554C>T | NP_001119603.1:p.Arg852Cys | |
| NM_002693.2:c.2554C>T | NP_002684.1:p.Arg852Cys | |
| NM_001126131.2:c.2554C>T | NP_001119603.1:p.Arg852Cys | |
| NM_002693.3:c.2554C>T MANE Select | NP_002684.1:p.Arg852Cys |