Linked Data
ClinVar Variation Id:
2496757
ClinVar RCV Id:
RCV003216334
dbSNP Id:
rs150546245
ExAC:
6:112469395 C / T
gnomAD v2:
6-112469395-C-T
gnomAD v4:
6-112148193-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112148193C>T , CM000668.2:g.112148193C>T | GRCh38 |
| NC_000006.11:g.112469395C>T , CM000668.1:g.112469395C>T | GRCh37 |
| NC_000006.10:g.112576088C>T | NCBI36 |
| NG_008209.1:g.111434G>A , LRG_433:g.111434G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230538.12:c.2317G>A MANE Select | ENSP00000230538.7:p.Ala773Thr | |
| ENST00000389463.9:c.2296G>A | ENSP00000374114.4:p.Ala766Thr | |
| ENST00000651860.1:c.187G>A | ENSP00000498842.1:p.Ala63Thr | |
| ENST00000230538.11:c.2317G>A | ENSP00000230538.7:p.Ala773Thr | |
| ENST00000389463.8:c.2296G>A | ENSP00000374114.4:p.Ala766Thr | |
| ENST00000424408.6:c.2296G>A | ENSP00000416470.2:p.Ala766Thr | |
| ENST00000522006.5:c.2296G>A | ENSP00000429488.1:p.Ala766Thr | |
| ENST00000523765.1:c.729G>A | ||
| NM_001105206.2:c.2317G>A | NP_001098676.2:p.Ala773Thr | |
| NM_001105207.2:c.2296G>A | NP_001098677.2:p.Ala766Thr | |
| NM_002290.4:c.2296G>A | NP_002281.3:p.Ala766Thr | |
| XM_005266983.3:c.2317G>A | XP_005267040.2:p.Ala773Thr | |
| XM_005266984.3:c.2317G>A | XP_005267041.2:p.Ala773Thr | |
| XM_011535821.1:c.2317G>A | XP_011534123.1:p.Ala773Thr | |
| XM_005266983.4:c.2317G>A | XP_005267040.2:p.Ala773Thr | |
| XM_005266984.4:c.2317G>A | XP_005267041.2:p.Ala773Thr | |
| XM_017010854.2:c.2296G>A | XP_016866343.1:p.Ala766Thr | |
| XR_001743406.2:n.2588G>A | ||
| XR_001743407.2:n.2567G>A | ||
| XR_001744299.1:n.429-7127C>T | ||
| NM_001105206.3:c.2317G>A MANE Select | NP_001098676.2:p.Ala773Thr | |
| NM_001105207.3:c.2296G>A | NP_001098677.2:p.Ala766Thr | |
| NM_002290.5:c.2296G>A | NP_002281.3:p.Ala766Thr |