Linked Data
ClinVar Variation Id:
408727
dbSNP Id:
rs189125299
ExAC:
6:123600200 C / T
gnomAD v2:
6-123600200-C-T
gnomAD v3:
6-123279055-C-T
gnomAD v4:
6-123279055-C-T
PubMed:
PMID:28166811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123279055C>T , CM000668.2:g.123279055C>T | GRCh38 |
| NC_000006.11:g.123600200C>T , CM000668.1:g.123600200C>T | GRCh37 |
| NC_000006.10:g.123641899C>T | NCBI36 |
| NG_030438.1:g.363039G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334268.9:c.1537+1G>A MANE Select | ENSP00000333984.5:n.1537+1G>A | |
| ENST00000334268.8:c.1537+1G>A | ENSP00000333984.5:n.1537+1G>A | |
| NM_006073.3:c.1537+1G>A | NP_006064.2:n.1537+1G>A | |
| XM_011535382.1:c.1483+1G>A | XP_011533684.1:n.1483+1G>A | |
| NM_006073.4:c.1537+1G>A MANE Select | NP_006064.2:n.1537+1G>A |