Linked Data
ClinVar Variation Id:
66405
ClinVar RCV Id:
RCV000056793
dbSNP Id:
rs60794845
gnomAD v4:
2-219418599-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219418599C>A , CM000664.2:g.219418599C>A | GRCh38 |
| NC_000002.11:g.220283321C>A , CM000664.1:g.220283321C>A | GRCh37 |
| NC_000002.10:g.219991565C>A | NCBI36 |
| NG_008043.1:g.5223C>A , LRG_380:g.5223C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373960.4:c.137C>A MANE Select | ENSP00000363071.3:p.Ser46Tyr | |
| ENST00000373960.3:c.137C>A | ENSP00000363071.3:p.Ser46Tyr | |
| NM_001927.3:c.137C>A , LRG_380t1:c.137C>A | NP_001918.3:p.Ser46Tyr | |
| NM_001927.4:c.137C>A MANE Select | NP_001918.3:p.Ser46Tyr | |
| NM_001382708.1:c.137C>A | NP_001369637.1:p.Ser46Tyr | |
| NM_001382709.1:c.137C>A | NP_001369638.1:p.Ser46Tyr | |
| NM_001382710.1:c.137C>A | NP_001369639.1:p.Ser46Tyr | |
| NM_001382711.1:c.137C>A | NP_001369640.1:p.Ser46Tyr | |
| NM_001382712.1:c.137C>A | NP_001369641.1:p.Ser46Tyr | |
| NM_001382713.1:c.137C>A | NP_001369642.1:p.Ser46Tyr |