Linked Data
ClinVar Variation Id:
1100327
ClinVar RCV Id:
RCV001422910
dbSNP Id:
rs180177202
ExAC:
2:241808752 C / A
gnomAD v2:
2-241808752-C-A
gnomAD v3:
2-240869335-C-A
gnomAD v4:
2-240869335-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869335C>A , CM000664.2:g.240869335C>A | GRCh38 |
| NC_000002.11:g.241808752C>A , CM000664.1:g.241808752C>A | GRCh37 |
| NC_000002.10:g.241457425C>A | NCBI36 |
| NG_008005.1:g.5591C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.331C>A MANE Select | ENSP00000302620.3:p.Arg111= | |
| ENST00000307503.3:c.331C>A | ENSP00000302620.3:p.Arg111= | |
| ENST00000472436.1:n.351C>A | ||
| NM_000030.2:c.331C>A | NP_000021.1:p.Arg111= | |
| XR_924060.1:n.405+898G>T | ||
| NM_000030.3:c.331C>A MANE Select | NP_000021.1:p.Arg111= |