Linked Data
ClinVar Variation Id:
12723
ClinVar RCV Id:
RCV000013560
dbSNP Id:
rs1800584
ExAC:
6:18131012 C / T
gnomAD v2:
6-18131012-C-T
gnomAD v3:
6-18130781-C-T
gnomAD v4:
6-18130781-C-T
PubMed:
PMID:9486974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130781C>T , CM000668.2:g.18130781C>T | GRCh38 |
| NC_000006.11:g.18131012C>T , CM000668.1:g.18131012C>T | GRCh37 |
| NC_000006.10:g.18238991C>T | NCBI36 |
| NG_012137.2:g.29363G>A | |
| NG_012137.3:g.29363G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.626-1G>A MANE Select | ENSP00000312304.4:n.626-1G>A | |
| ENST00000309983.4:c.626-1G>A | ENSP00000312304.4:n.626-1G>A | |
| NM_000367.3:c.626-1G>A | NP_000358.1:n.626-1G>A | |
| XM_011514839.1:c.581-1G>A | XP_011513141.1:n.581-1G>A | |
| XM_011514840.1:c.557-1G>A | XP_011513142.1:n.557-1G>A | |
| NM_000367.4:c.626-1G>A | NP_000358.1:n.626-1G>A | |
| NM_001346817.1:c.626-1G>A | NP_001333746.1:n.626-1G>A | |
| NM_001346818.1:c.581-1G>A | NP_001333747.1:n.581-1G>A | |
| NM_000367.5:c.626-1G>A MANE Select | NP_000358.1:n.626-1G>A |