Linked Data
ClinVar Variation Id:
356213
ClinVar RCV Id:
RCV000397242
dbSNP Id:
rs886061285
gnomAD v3:
6-29673313-C-T
gnomAD v4:
6-29673313-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29673313C>T , CM000668.2:g.29673313C>T | GRCh38 |
| NC_000006.11:g.29641090C>T , CM000668.1:g.29641090C>T | GRCh37 |
| NC_000006.10:g.29749069C>T | NCBI36 |
| NG_013045.1:g.8842G>A | |
| NG_031873.1:g.21333C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376883.2:c.798G>A MANE Select | ENSP00000366080.2:p.Lys266= | |
| ENST00000488757.6:c.582G>A | ENSP00000418259.2:p.Lys194= | |
| ENST00000376881.4:c.546G>A | ENSP00000366078.4:p.Lys182= | |
| ENST00000376883.1:c.738G>A | ENSP00000366080.1:p.Lys246= | |
| ENST00000488757.5:c.798G>A | ENSP00000418259.1:p.Lys266= | |
| NM_001109809.2:c.798G>A | NP_001103279.2:p.Lys266= | |
| XM_006715087.2:c.582G>A | XP_006715150.1:p.Lys194= | |
| XM_011514570.1:c.798G>A | XP_011512872.1:p.Lys266= | |
| NM_001109809.3:c.798G>A | NP_001103279.2:p.Lys266= | |
| NM_001366333.1:c.582G>A | NP_001353262.1:p.Lys194= | |
| NM_001109809.4:c.798G>A | NP_001103279.2:p.Lys266= | |
| NM_001366333.2:c.582G>A | NP_001353262.1:p.Lys194= | |
| NM_001109809.5:c.798G>A MANE Select | NP_001103279.2:p.Lys266= |