Linked Data
ClinVar Variation Id:
347825
dbSNP Id:
rs191297318
ExAC:
4:155525498 G / A
gnomAD v2:
4-155525498-G-A
gnomAD v3:
4-154604346-G-A
gnomAD v4:
4-154604346-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154604346G>A , CM000666.2:g.154604346G>A | GRCh38 |
| NC_000004.11:g.155525498G>A , CM000666.1:g.155525498G>A | GRCh37 |
| NC_000004.10:g.155744948G>A | NCBI36 |
| NG_008834.1:g.13405C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336098.8:c.*488C>T MANE Select | ENSP00000336829.3:n.*488C>T | |
| ENST00000404648.7:c.1308C>T | ENSP00000384860.3:p.Asp436= | |
| ENST00000405164.5:c.1332C>T | ENSP00000384101.1:p.Asp444= | |
| ENST00000465913.1:n.1398C>T | ||
| ENST00000492082.5:n.1850C>T | ||
| NM_000509.4:c.1308C>T | NP_000500.2:p.Asp436= | |
| NM_000509.5:c.1308C>T | NP_000500.2:p.Asp436= | |
| NM_021870.3:c.*488C>T MANE Select | NP_068656.2:n.*488C>T | |
| NM_000509.6:c.1308C>T | NP_000500.2:p.Asp436= |