Linked Data
ClinVar Variation Id:
2867613
ClinVar RCV Id:
RCV003702842
dbSNP Id:
rs750989142
ExAC:
2:233405301 T / C
gnomAD v2:
2-233405301-T-C
gnomAD v3:
2-232540591-T-C
gnomAD v4:
2-232540591-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232540591T>C , CM000664.2:g.232540591T>C | GRCh38 |
| NC_000002.11:g.233405301T>C , CM000664.1:g.233405301T>C | GRCh37 |
| NC_000002.10:g.233113545T>C | NCBI36 |
| NG_012954.1:g.5865T>C | |
| NG_012954.2:g.5900T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.241-11T>C MANE Select | ENSP00000498757.1:n.241-11T>C | |
| ENST00000389492.3:c.241-11T>C | ENSP00000374143.3:n.241-11T>C | |
| ENST00000389494.7:c.241-11T>C | ENSP00000374145.3:n.241-11T>C | |
| ENST00000485094.1:n.262-11T>C | ||
| NM_005199.4:c.241-11T>C | NP_005190.4:n.241-11T>C | |
| NM_005199.5:c.241-11T>C MANE Select | NP_005190.4:n.241-11T>C |