Linked Data
ClinVar Variation Id:
3048409
ClinVar RCV Id:
RCV003952166
dbSNP Id:
rs547765642
ExAC:
4:155490757 C / T
gnomAD v2:
4-155490757-C-T
gnomAD v3:
4-154569605-C-T
gnomAD v4:
4-154569605-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569605C>T , CM000666.2:g.154569605C>T | GRCh38 |
| NC_000004.11:g.155490757C>T , CM000666.1:g.155490757C>T | GRCh37 |
| NC_000004.10:g.155710207C>T | NCBI36 |
| NG_008833.1:g.11626C>T , LRG_558:g.11626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1050C>T MANE Select | ENSP00000306099.4:p.Asp350= | |
| ENST00000302068.8:c.1050C>T | ENSP00000306099.4:p.Asp350= | |
| ENST00000502545.5:n.939+298C>T | ||
| ENST00000509493.1:c.393C>T | ENSP00000426757.1:p.Asp131= | |
| NM_001184741.1:c.873C>T | NP_001171670.1:p.Asp291= | |
| NM_005141.4:c.1050C>T , LRG_558t1:c.1050C>T | NP_005132.2:p.Asp350= | |
| NM_001382759.1:c.918C>T | NP_001369688.1:p.Asp306= | |
| NM_001382760.1:c.1050C>T | NP_001369689.1:p.Asp350= | |
| NM_001382761.1:c.1050C>T | NP_001369690.1:p.Asp350= | |
| NM_001382762.1:c.750C>T | NP_001369691.1:p.Asp250= | |
| NM_001382763.1:c.1041C>T | NP_001369692.1:p.Asp347= | |
| NM_001382764.1:c.1050C>T | NP_001369693.1:p.Asp350= | |
| NM_001382765.1:c.1050C>T | NP_001369694.1:p.Asp350= | |
| NM_005141.5:c.1050C>T MANE Select | NP_005132.2:p.Asp350= |