Linked Data
ClinVar Variation Id:
2869143
ClinVar RCV Id:
RCV003705348
dbSNP Id:
rs760043210
ExAC:
2:233405439 G / A
gnomAD v2:
2-233405439-G-A
gnomAD v3:
2-232540729-G-A
gnomAD v4:
2-232540729-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232540729G>A , CM000664.2:g.232540729G>A | GRCh38 |
| NC_000002.11:g.233405439G>A , CM000664.1:g.233405439G>A | GRCh37 |
| NC_000002.10:g.233113683G>A | NCBI36 |
| NG_012954.1:g.6003G>A | |
| NG_012954.2:g.6038G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.350+18G>A MANE Select | ENSP00000498757.1:n.350+18G>A | |
| ENST00000389492.3:c.350+18G>A | ENSP00000374143.3:n.350+18G>A | |
| ENST00000389494.7:c.350+18G>A | ENSP00000374145.3:n.350+18G>A | |
| ENST00000485094.1:n.371+18G>A | ||
| NM_005199.4:c.350+18G>A | NP_005190.4:n.350+18G>A | |
| NM_005199.5:c.350+18G>A MANE Select | NP_005190.4:n.350+18G>A |