Linked Data
ClinVar Variation Id:
304789
dbSNP Id:
rs200414298
ExAC:
11:45935723 C / T
gnomAD v2:
11-45935723-C-T
gnomAD v3:
11-45914172-C-T
gnomAD v4:
11-45914172-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45914172C>T , CM000673.2:g.45914172C>T | GRCh38 |
| NC_000011.9:g.45935723C>T , CM000673.1:g.45935723C>T | GRCh37 |
| NC_000011.8:g.45892299C>T | NCBI36 |
| NG_008460.1:g.8952G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.726G>A MANE Select | ENSP00000368024.5:p.Ser242= | |
| ENST00000241041.7:c.726G>A | ENSP00000241041.3:p.Ser242= | |
| ENST00000378750.9:c.726G>A | ENSP00000368024.5:p.Ser242= | |
| ENST00000525192.5:c.441G>A | ENSP00000431309.1:p.Ser147= | |
| ENST00000532554.5:n.497G>A | ||
| ENST00000532681.5:c.441G>A | ENSP00000434654.1:p.Ser147= | |
| ENST00000533151.5:c.414G>A | ENSP00000433045.1:p.Ser138= | |
| NM_004813.2:c.726G>A | NP_004804.1:p.Ser242= | |
| NM_057174.2:c.726G>A | NP_476515.1:p.Ser242= | |
| XM_011520474.1:c.603G>A | XP_011518776.1:p.Ser201= | |
| NM_004813.3:c.726G>A | NP_004804.1:p.Ser242= | |
| NM_004813.4:c.726G>A MANE Select | NP_004804.2:p.Ser242= | |
| NM_057174.3:c.726G>A | NP_476515.2:p.Ser242= |