Linked Data
ClinVar Variation Id:
9363
ClinVar RCV Id:
RCV000009957
dbSNP Id:
rs137852625
ExAC:
19:17948747 G / T
gnomAD v3:
19-17837938-G-T
gnomAD v4:
19-17837938-G-T
ERepo:
CA120303/MONDO:0010938/121
PubMed:
PMID:7481768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17837938G>T , CM000681.2:g.17837938G>T | GRCh38 |
| NC_000019.9:g.17948747G>T , CM000681.1:g.17948747G>T | GRCh37 |
| NC_000019.8:g.17809747G>T | NCBI36 |
| NG_007273.1:g.15054C>A , LRG_77:g.15054C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*252C>A | ENSP00000513006.1:n.*252C>A | |
| ENST00000696967.1:n.872C>A | ||
| ENST00000696970.1:n.350C>A | ||
| ENST00000458235.7:c.1695C>A MANE Select | ENSP00000391676.1:p.Cys565Ter | |
| ENST00000458235.5:c.1695C>A | ENSP00000391676.1:p.Cys565Ter | |
| ENST00000527031.5:n.1785C>A | ||
| ENST00000527670.5:c.1695C>A | ENSP00000432511.1:p.Cys565Ter | |
| ENST00000534444.1:c.1695C>A | ENSP00000436421.1:p.Cys565Ter | |
| NM_000215.3:c.1695C>A , LRG_77t1:c.1695C>A | NP_000206.2:p.Cys565Ter | |
| XM_005259896.2:c.1824C>A | XP_005259953.1:p.Cys608Ter | |
| XM_006722745.2:c.1695C>A | XP_006722808.1:p.Cys565Ter | |
| XM_011527990.1:c.1824C>A | XP_011526292.1:p.Cys608Ter | |
| XM_011527991.1:c.1824C>A | XP_011526293.1:p.Cys608Ter | |
| XR_430137.2:n.1834C>A | ||
| XM_005259896.3:c.1824C>A | XP_005259953.1:p.Cys608Ter | |
| XM_011527991.2:c.1824C>A | XP_011526293.1:p.Cys608Ter | |
| NM_000215.4:c.1695C>A MANE Select | NP_000206.2:p.Cys565Ter |