Linked Data
ClinVar Variation Id:
370520
ClinVar RCV Id:
RCV000409059
dbSNP Id:
rs267608253
PubMed:
PMID:11781871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136822796G>C , CM000668.2:g.136822796G>C | GRCh38 |
| NC_000006.11:g.137143934G>C , CM000668.1:g.137143934G>C | GRCh37 |
| NC_000006.10:g.137185627G>C | NCBI36 |
| NG_008462.1:g.5217G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.130+1G>C MANE Select | ENSP00000315680.3:n.130+1G>C | |
| ENST00000541292.6:c.130+1G>C | ENSP00000441004.1:n.130+1G>C | |
| ENST00000678593.1:c.130+1G>C | ENSP00000503841.1:n.130+1G>C | |
| ENST00000318471.4:c.130+1G>C | ENSP00000315680.3:n.130+1G>C | |
| ENST00000367756.8:c.130+1G>C | ENSP00000356730.4:n.130+1G>C | |
| ENST00000541292.5:c.130+1G>C | ENSP00000441004.1:n.130+1G>C | |
| NM_000288.3:c.130+1G>C | NP_000279.1:n.130+1G>C | |
| XM_006715502.1:c.130+1G>C | XP_006715565.1:n.130+1G>C | |
| XM_011535900.1:c.130+1G>C | XP_011534202.1:n.130+1G>C | |
| XM_006715502.2:c.130+1G>C | XP_006715565.1:n.130+1G>C | |
| XM_017010934.2:c.130+1G>C | XP_016866423.1:n.130+1G>C | |
| NM_000288.4:c.130+1G>C MANE Select | NP_000279.1:n.130+1G>C |