Linked Data
ClinVar Variation Id:
3550
dbSNP Id:
rs201893545
ExAC:
3:101023121 A / G
gnomAD v2:
3-101023121-A-G
gnomAD v3:
3-101304277-A-G
gnomAD v4:
3-101304277-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101304277A>G , CM000665.2:g.101304277A>G | GRCh38 |
| NC_000003.11:g.101023121A>G , CM000665.1:g.101023121A>G | GRCh37 |
| NC_000003.10:g.102505811A>G | NCBI36 |
| NG_028284.1:g.21299T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000193391.8:c.370T>C MANE Select | ENSP00000193391.6:p.Phe124Leu | |
| ENST00000193391.7:c.370T>C | ENSP00000193391.6:p.Phe124Leu | |
| NM_016247.3:c.370T>C | NP_057331.2:p.Phe124Leu | |
| XM_011512871.1:c.76T>C | XP_011511173.1:p.Phe26Leu | |
| XM_011512872.1:c.-42T>C | XP_011511174.1:n.-42T>C | |
| NM_016247.4:c.370T>C MANE Select | NP_057331.2:p.Phe124Leu |