Linked Data
ClinVar Variation Id:
303940
dbSNP Id:
rs139399106
ExAC:
11:1862371 G / A
gnomAD v2:
11-1862371-G-A
gnomAD v3:
11-1841141-G-A
gnomAD v4:
11-1841141-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1841141G>A , CM000673.2:g.1841141G>A | GRCh38 |
| NC_000011.9:g.1862371G>A , CM000673.1:g.1862371G>A | GRCh37 |
| NC_000011.8:g.1818947G>A | NCBI36 |
| NG_011621.1:g.7139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381911.6:c.387G>A MANE Select | ENSP00000371336.1:p.Ser129= | |
| ENST00000252898.11:c.387G>A | ENSP00000252898.7:p.Ser129= | |
| ENST00000381905.3:c.387G>A | ENSP00000371330.3:p.Ser129= | |
| ENST00000381906.5:c.387G>A | ENSP00000371331.1:p.Ser129= | |
| ENST00000381911.5:c.387G>A | ENSP00000371336.1:p.Ser129= | |
| ENST00000617947.4:c.387G>A | ENSP00000481242.1:p.Ser129= | |
| NM_001145829.1:c.387G>A | NP_001139301.1:p.Ser129= | |
| NM_001145841.1:c.387G>A | NP_001139313.1:p.Ser129= | |
| NM_003282.3:c.387G>A | NP_003273.1:p.Ser129= | |
| NM_003282.4:c.387G>A MANE Select | NP_003273.1:p.Ser129= | |
| NM_001145829.2:c.387G>A | NP_001139301.1:p.Ser129= | |
| NM_001145841.2:c.387G>A | NP_001139313.1:p.Ser129= |