Linked Data
ClinVar Variation Id:
3043067
ClinVar RCV Id:
RCV003933902
dbSNP Id:
rs763283543
ExAC:
X:105277702 G / A
gnomAD v2:
X-105277702-G-A
gnomAD v3:
X-106033711-G-A
gnomAD v4:
X-106033711-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106033711G>A , CM000685.2:g.106033711G>A | GRCh38 |
| NC_000023.10:g.105277702G>A , CM000685.1:g.105277702G>A | GRCh37 |
| NC_000023.9:g.105164358G>A | NCBI36 |
| NG_021252.1:g.10017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372563.2:c.1045-8C>T MANE Select | ENSP00000361644.1:n.1045-8C>T | |
| ENST00000327674.8:c.1045-8C>T | ENSP00000329374.4:n.1045-8C>T | |
| ENST00000372563.1:c.1045-8C>T | ENSP00000361644.1:n.1045-8C>T | |
| ENST00000487487.1:n.371C>T | ||
| NM_000354.5:c.1045-8C>T | NP_000345.2:n.1045-8C>T | |
| XM_005262180.3:c.1098C>T | XP_005262237.1:p.Pro366= | |
| XM_006724683.1:c.1067C>T | XP_006724746.1:p.Pro356Leu | |
| XM_005262180.4:c.1098C>T | XP_005262237.1:p.Pro366= | |
| XM_006724683.2:c.1067C>T | XP_006724746.1:p.Pro356Leu | |
| NM_000354.6:c.1045-8C>T MANE Select | NP_000345.2:n.1045-8C>T |