Linked Data
ClinVar Variation Id:
353083
dbSNP Id:
rs1054480
ExAC:
5:178540975 G / A
gnomAD v2:
5-178540975-G-A
gnomAD v3:
5-179113974-G-A
gnomAD v4:
5-179113974-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179113974G>A , CM000667.2:g.179113974G>A | GRCh38 |
| NC_000005.9:g.178540975G>A , CM000667.1:g.178540975G>A | GRCh37 |
| NC_000005.8:g.178473581G>A | NCBI36 |
| NG_023212.2:g.236355C>T | |
| NG_023212.3:g.236355C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251582.12:c.3529C>T MANE Select | ENSP00000251582.7:p.Pro1177Ser | |
| ENST00000251582.11:c.3529C>T | ENSP00000251582.7:p.Pro1177Ser | |
| NM_014244.4:c.3529C>T | NP_055059.2:p.Pro1177Ser | |
| NM_014244.5:c.3529C>T MANE Select | NP_055059.2:p.Pro1177Ser |