Linked Data
ClinVar Variation Id:
203624
ClinVar RCV Id:
RCV000411012
dbSNP Id:
rs201523601
ExAC:
7:65547439 G / T
gnomAD v2:
7-65547439-G-T
gnomAD v3:
7-66082452-G-T
gnomAD v4:
7-66082452-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66082452G>T , CM000669.2:g.66082452G>T | GRCh38 |
| NC_000007.13:g.65547439G>T , CM000669.1:g.65547439G>T | GRCh37 |
| NC_000007.12:g.65184874G>T | NCBI36 |
| NG_009288.1:g.11664G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.291+1G>T MANE Select | ENSP00000307188.9:n.291+1G>T | |
| ENST00000362000.10:c.96+1G>T | ENSP00000354710.6:n.96+1G>T | |
| ENST00000380839.9:c.291+1G>T | ENSP00000370219.4:n.291+1G>T | |
| ENST00000395331.4:c.291+1G>T | ENSP00000378740.3:n.291+1G>T | |
| ENST00000395332.8:c.291+1G>T | ENSP00000378741.3:n.291+1G>T | |
| ENST00000671817.1:c.291+1G>T | ENSP00000500462.1:n.291+1G>T | |
| ENST00000672498.1:c.291+1G>T | ENSP00000500227.1:n.291+1G>T | |
| ENST00000672586.1:n.196+1G>T | ||
| ENST00000672676.1:n.461+1G>T | ||
| ENST00000673350.1:n.539+1G>T | ||
| ENST00000673518.1:c.291+1G>T | ENSP00000499889.1:n.291+1G>T | |
| ENST00000673594.1:n.140+1G>T | ||
| ENST00000304874.13:c.291+1G>T | ENSP00000307188.9:n.291+1G>T | |
| ENST00000362000.9:c.96+1G>T | ENSP00000354710.5:n.96+1G>T | |
| ENST00000380839.8:c.291+1G>T | ENSP00000370219.4:n.291+1G>T | |
| ENST00000395331.3:c.291+1G>T | ENSP00000378740.3:n.291+1G>T | |
| ENST00000395332.7:c.291+1G>T | ENSP00000378741.3:n.291+1G>T | |
| ENST00000487982.5:n.357+1G>T | ||
| ENST00000496336.1:n.532+1G>T | ||
| NM_000048.3:c.291+1G>T | NP_000039.2:n.291+1G>T | |
| NM_001024943.1:c.291+1G>T | NP_001020114.1:n.291+1G>T | |
| NM_001024944.1:c.291+1G>T | NP_001020115.1:n.291+1G>T | |
| NM_001024946.1:c.291+1G>T | NP_001020117.1:n.291+1G>T | |
| NM_000048.4:c.291+1G>T MANE Select | NP_000039.2:n.291+1G>T | |
| NM_001024943.2:c.291+1G>T | NP_001020114.1:n.291+1G>T | |
| NM_001024944.2:c.291+1G>T | NP_001020115.1:n.291+1G>T | |
| NM_001024946.2:c.291+1G>T | NP_001020117.1:n.291+1G>T |