Linked Data
dbSNP Id:
rs138954773
gnomAD v2:
1-161192227-C-T
gnomAD v3:
1-161222437-C-T
gnomAD v4:
1-161222437-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161222437C>T , CM000663.2:g.161222437C>T | GRCh38 |
| NC_000001.10:g.161192227C>T , CM000663.1:g.161192227C>T | GRCh37 |
| NC_000001.9:g.159458851C>T | NCBI36 |
| NG_012043.1:g.6192G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367990.7:c.271G>A MANE Select | ENSP00000356969.3:p.Val91Met | |
| ENST00000463273.5:c.271G>A | ENSP00000476740.1:p.Val91Met | |
| ENST00000463812.1:c.127G>A | ENSP00000476890.1:p.Val43Met | |
| ENST00000464492.5:c.370G>A | ENSP00000476911.1:p.Val124Met | |
| ENST00000468465.5:c.127G>A | ENSP00000476662.1:p.Val43Met | |
| ENST00000470459.6:c.217G>A | ENSP00000477031.1:p.Val73Met | |
| ENST00000481413.1:n.782G>A | ||
| ENST00000481511.5:c.*268G>A | ENSP00000477054.1:n.*268G>A | |
| ENST00000491350.1:c.*54G>A | ENSP00000477353.1:n.*54G>A | |
| NM_001643.1:c.271G>A | NP_001634.1:p.Val91Met | |
| NM_001643.2:c.271G>A MANE Select | NP_001634.1:p.Val91Met |