Linked Data
ClinVar Variation Id:
30490
dbSNP Id:
rs144478519
ExAC:
2:113820124 C / T
gnomAD v2:
2-113820124-C-T
gnomAD v3:
2-113062547-C-T
gnomAD v4:
2-113062547-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113062547C>T , CM000664.2:g.113062547C>T | GRCh38 |
| NC_000002.11:g.113820124C>T , CM000664.1:g.113820124C>T | GRCh37 |
| NC_000002.10:g.113536595C>T | NCBI36 |
| NG_031864.1:g.8910C>T , LRG_730:g.8910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437409.2:c.338C>T | ENSP00000409262.2:p.Ser113Leu | |
| ENST00000393200.7:c.338C>T MANE Select | ENSP00000376896.2:p.Ser113Leu | |
| ENST00000346807.7:c.338C>T | ENSP00000259212.3:p.Ser113Leu | |
| ENST00000393200.6:c.338C>T | ENSP00000376896.2:p.Ser113Leu | |
| ENST00000437409.1:c.338C>T | ENSP00000409262.1:p.Ser113Leu | |
| ENST00000514072.1:c.28C>T | ||
| NM_012275.2:c.338C>T , LRG_730t2:c.338C>T | NP_036407.1:p.Ser113Leu | |
| NM_173170.1:c.338C>T , LRG_730t1:c.338C>T | NP_775262.1:p.Ser113Leu | |
| NM_012275.3:c.338C>T MANE Select | NP_036407.1:p.Ser113Leu |