Linked Data
ClinVar Variation Id:
352002
dbSNP Id:
rs192618681
ExAC:
5:149323853 G / A
gnomAD v2:
5-149323853-G-A
gnomAD v3:
5-149944290-G-A
gnomAD v4:
5-149944290-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149944290G>A , CM000667.2:g.149944290G>A | GRCh38 |
| NC_000005.9:g.149323853G>A , CM000667.1:g.149323853G>A | GRCh37 |
| NC_000005.8:g.149304046G>A | NCBI36 |
| NG_009102.1:g.5504C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.384C>T MANE Select | ENSP00000255266.5:p.Pro128= | |
| ENST00000255266.9:c.384C>T | ENSP00000255266.5:p.Pro128= | |
| ENST00000508173.5:n.504C>T | ||
| ENST00000613228.1:c.384C>T | ENSP00000478060.1:p.Pro128= | |
| ENST00000617647.4:c.384C>T | ENSP00000482774.1:p.Pro128= | |
| NM_000440.2:c.384C>T | NP_000431.2:p.Pro128= | |
| XM_011537648.1:c.384C>T | XP_011535950.1:p.Pro128= | |
| XM_011537649.1:c.-72-9572C>T | XP_011535951.1:n.-72-9572C>T | |
| XM_017009572.2:c.384C>T | XP_016865061.1:p.Pro128= | |
| NM_000440.3:c.384C>T MANE Select | NP_000431.2:p.Pro128= |