Linked Data
dbSNP Id:
rs756729738
ExAC:
6:31590598 G / C
gnomAD v2:
6-31590598-G-C
gnomAD v3:
6-31622821-G-C
gnomAD v4:
6-31622821-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31622821G>C , CM000668.2:g.31622821G>C | GRCh38 |
| NC_000006.11:g.31590598G>C , CM000668.1:g.31590598G>C | GRCh37 |
| NC_000006.10:g.31698577G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706625.1:c.48G>C | ENSP00000516471.1:p.Gly16= | |
| ENST00000376033.3:c.32G>C MANE Select | ENSP00000365201.2:p.Gly11Ala | |
| ENST00000376007.8:c.32G>C | ENSP00000365175.4:p.Gly11Ala | |
| ENST00000376033.2:c.32G>C | ENSP00000365201.2:p.Gly11Ala | |
| ENST00000469577.5:n.136-1440G>C | ||
| NM_004638.3:c.32G>C | NP_004629.3:p.Gly11Ala | |
| NM_080686.2:c.32G>C | NP_542417.2:p.Gly11Ala | |
| XM_011514890.1:c.32G>C | XP_011513192.1:p.Gly11Ala | |
| XM_017011274.1:c.32G>C | XP_016866763.1:p.Gly11Ala | |
| NM_004638.4:c.32G>C MANE Select | NP_004629.3:p.Gly11Ala | |
| NM_080686.3:c.32G>C | NP_542417.2:p.Gly11Ala |