Linked Data
ClinVar Variation Id:
2038027
ClinVar RCV Id:
RCV002890409
dbSNP Id:
rs756923731
ExAC:
X:8699854 C / A
gnomAD v2:
X-8699854-C-A
gnomAD v3:
X-8731813-C-A
gnomAD v4:
X-8731813-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731813C>A , CM000685.2:g.8731813C>A | GRCh38 |
| NC_000023.10:g.8699854C>A , CM000685.1:g.8699854C>A | GRCh37 |
| NC_000023.9:g.8659854C>A | NCBI36 |
| NG_007088.1:g.5374G>T | |
| NG_007088.2:g.5374G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.207+17G>T MANE Select | ENSP00000262648.3:n.207+17G>T | |
| ENST00000262648.7:c.207+17G>T | ENSP00000262648.3:n.207+17G>T | |
| ENST00000619786.1:c.204+17G>T | ENSP00000478734.1:n.204+17G>T | |
| NM_000216.2:c.207+17G>T | NP_000207.2:n.207+17G>T | |
| XM_005274501.3:c.207+17G>T | XP_005274558.1:n.207+17G>T | |
| NM_000216.3:c.207+17G>T | NP_000207.2:n.207+17G>T | |
| XM_005274501.4:c.207+17G>T | XP_005274558.1:n.207+17G>T | |
| NM_000216.4:c.207+17G>T MANE Select | NP_000207.2:n.207+17G>T |