Linked Data
dbSNP Id:
rs776700228
ExAC:
6:29640529 C / T
gnomAD v2:
6-29640529-C-T
gnomAD v4:
6-29672752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29672752C>T , CM000668.2:g.29672752C>T | GRCh38 |
| NC_000006.11:g.29640529C>T , CM000668.1:g.29640529C>T | GRCh37 |
| NC_000006.10:g.29748508C>T | NCBI36 |
| NG_013045.1:g.9403G>A | |
| NG_031873.1:g.20772C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376883.2:c.1359G>A MANE Select | ENSP00000366080.2:p.Glu453= | |
| ENST00000488757.6:c.1143G>A | ENSP00000418259.2:p.Glu381= | |
| ENST00000376881.4:c.1107G>A | ENSP00000366078.4:p.Glu369= | |
| ENST00000376883.1:c.1299G>A | ENSP00000366080.1:p.Glu433= | |
| ENST00000488757.5:c.1359G>A | ENSP00000418259.1:p.Glu453= | |
| NM_001109809.2:c.1359G>A | NP_001103279.2:p.Glu453= | |
| XM_006715087.2:c.1143G>A | XP_006715150.1:p.Glu381= | |
| XM_011514570.1:c.1359G>A | XP_011512872.1:p.Glu453= | |
| NM_001109809.3:c.1359G>A | NP_001103279.2:p.Glu453= | |
| NM_001366333.1:c.1143G>A | NP_001353262.1:p.Glu381= | |
| NM_001109809.4:c.1359G>A | NP_001103279.2:p.Glu453= | |
| NM_001366333.2:c.1143G>A | NP_001353262.1:p.Glu381= | |
| NM_001109809.5:c.1359G>A MANE Select | NP_001103279.2:p.Glu453= |