Linked Data
dbSNP Id:
rs752557522
ExAC:
3:81720024 T / G
gnomAD v2:
3-81720024-T-G
gnomAD v4:
3-81670873-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670873T>G , CM000665.2:g.81670873T>G | GRCh38 |
| NC_000003.11:g.81720024T>G , CM000665.1:g.81720024T>G | GRCh37 |
| NC_000003.10:g.81802714T>G | NCBI36 |
| NG_011810.1:g.95928A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.394A>C MANE Select | ENSP00000410833.2:p.Lys132Gln | |
| ENST00000429644.6:c.394A>C | ENSP00000410833.2:p.Lys132Gln | |
| ENST00000477426.1:n.110A>C | ||
| ENST00000489715.1:c.271A>C | ENSP00000419638.1:p.Lys91Gln | |
| NM_000158.3:c.394A>C | NP_000149.3:p.Lys132Gln | |
| NM_000158.4:c.394A>C MANE Select | NP_000149.4:p.Lys132Gln |