Linked Data
ClinVar Variation Id:
2141752
ClinVar RCV Id:
RCV003074029
dbSNP Id:
rs749041916
ExAC:
1:236882180 T / G
gnomAD v2:
1-236882180-T-G
gnomAD v3:
1-236718880-T-G
gnomAD v4:
1-236718880-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236718880T>G , CM000663.2:g.236718880T>G | GRCh38 |
| NC_000001.10:g.236882180T>G , CM000663.1:g.236882180T>G | GRCh37 |
| NC_000001.9:g.234948803T>G | NCBI36 |
| NG_009081.1:g.37411T>G | |
| NG_009081.2:g.59740T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.242-14T>G | ENSP00000443495.1:n.242-14T>G | |
| ENST00000492634.7:n.337-14T>G | ||
| ENST00000682015.1:c.242-14T>G | ENSP00000506961.1:n.242-14T>G | |
| ENST00000682692.1:n.242-14T>G | ||
| ENST00000682966.1:n.241-14T>G | ||
| ENST00000683075.1:n.181-14T>G | ||
| ENST00000683111.1:c.185-14T>G | ENSP00000507913.1:n.185-14T>G | |
| ENST00000684050.1:n.277-14T>G | ||
| ENST00000684286.1:n.310-14T>G | ||
| ENST00000684502.1:n.277-14T>G | ||
| ENST00000366578.6:c.242-14T>G MANE Select | ENSP00000355537.4:n.242-14T>G | |
| ENST00000492634.6:n.337-14T>G | ||
| ENST00000542672.6:c.242-14T>G | ENSP00000443495.1:n.242-14T>G | |
| ENST00000651091.1:c.185-14T>G | ENSP00000498677.1:n.185-14T>G | |
| ENST00000651187.1:c.26-14T>G | ENSP00000498348.1:n.26-14T>G | |
| ENST00000651275.1:c.227-14T>G | ENSP00000498926.1:n.227-14T>G | |
| ENST00000651786.1:c.242-14T>G | ENSP00000498364.1:n.242-14T>G | |
| ENST00000652096.1:c.242-14T>G | ENSP00000498896.1:n.242-14T>G | |
| ENST00000366578.5:c.242-14T>G | ENSP00000355537.4:n.242-14T>G | |
| ENST00000492634.5:n.389-14T>G | ||
| ENST00000542672.5:c.242-14T>G | ENSP00000443495.1:n.242-14T>G | |
| ENST00000546208.5:c.-580-14T>G | ENSP00000438384.2:n.-580-14T>G | |
| NM_001103.3:c.242-14T>G | NP_001094.1:n.242-14T>G | |
| NM_001278343.1:c.242-14T>G | NP_001265272.1:n.242-14T>G | |
| NM_001278344.1:c.-580-14T>G | NP_001265273.1:n.-580-14T>G | |
| NM_001278343.2:c.242-14T>G | NP_001265272.1:n.242-14T>G | |
| NM_001103.4:c.242-14T>G MANE Select | NP_001094.1:n.242-14T>G | |
| NM_001278344.2:c.-580-14T>G | NP_001265273.1:n.-580-14T>G |