Linked Data
dbSNP Id:
rs1130375
ExAC:
6:32632820 C / G
gnomAD v2:
6-32632820-C-G
gnomAD v3:
6-32665043-C-G
gnomAD v4:
6-32665043-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32665043C>G , CM000668.2:g.32665043C>G | GRCh38 |
| NC_000006.11:g.32632820C>G , CM000668.1:g.32632820C>G | GRCh37 |
| NC_000006.10:g.32740798C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000434651.7:c.134G>C MANE Select | ENSP00000407332.2:p.Gly45Ala | |
| ENST00000374943.8:c.134G>C | ENSP00000364080.4:p.Gly45Ala | |
| ENST00000399079.7:c.134G>C | ENSP00000382029.3:p.Gly45Ala | |
| ENST00000399082.7:c.109+1456G>C | ENSP00000382032.3:n.109+1456G>C | |
| ENST00000399084.5:c.134G>C | ENSP00000382034.1:p.Gly45Ala | |
| ENST00000434651.6:c.134G>C | ENSP00000407332.2:p.Gly45Ala | |
| ENST00000484729.2:c.134G>C | ENSP00000436686.1:p.Gly45Ala | |
| ENST00000487676.1:n.165G>C | ||
| NM_001243961.1:c.134G>C | NP_001230890.1:p.Gly45Ala | |
| NM_002123.4:c.134G>C | NP_002114.3:p.Gly45Ala | |
| NM_001243961.2:c.134G>C | NP_001230890.1:p.Gly45Ala | |
| NM_002123.5:c.134G>C MANE Select | NP_002114.3:p.Gly45Ala |