Linked Data
ClinVar Variation Id:
96608
dbSNP Id:
rs398124593
gnomAD v3:
6-80200943-T-C
gnomAD v4:
6-80200943-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80200943T>C , CM000668.2:g.80200943T>C | GRCh38 |
| NC_000006.11:g.80910660T>C , CM000668.1:g.80910660T>C | GRCh37 |
| NC_000006.10:g.80967379T>C | NCBI36 |
| NG_009775.1:g.99317T>C | |
| NG_009775.2:g.99317T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.752T>C MANE Select | ENSP00000318351.5:p.Val251Ala | |
| ENST00000320393.8:c.752T>C | ENSP00000318351.5:p.Val251Ala | |
| ENST00000356489.9:c.752T>C | ENSP00000348880.5:p.Val251Ala | |
| NM_000056.3:c.752T>C | NP_000047.1:p.Val251Ala | |
| NM_183050.2:c.752T>C | NP_898871.1:p.Val251Ala | |
| XM_005248756.3:c.752T>C | XP_005248813.1:p.Val251Ala | |
| XM_006715542.2:c.542T>C | XP_006715605.1:p.Val181Ala | |
| XM_011536023.1:c.752T>C | XP_011534325.1:p.Val251Ala | |
| XM_011536024.1:c.752T>C | XP_011534326.1:p.Val251Ala | |
| XM_011536025.1:c.752T>C | XP_011534327.1:p.Val251Ala | |
| XM_011536026.1:c.542T>C | XP_011534328.1:p.Val181Ala | |
| NM_000056.4:c.752T>C | NP_000047.1:p.Val251Ala | |
| NM_001318975.1:c.542T>C | NP_001305904.1:p.Val181Ala | |
| NM_183050.3:c.752T>C | NP_898871.1:p.Val251Ala | |
| NR_134945.1:n.930T>C | ||
| XM_005248756.5:c.752T>C | XP_005248813.1:p.Val251Ala | |
| XM_011536023.3:c.752T>C | XP_011534325.1:p.Val251Ala | |
| XM_011536024.3:c.752T>C | XP_011534326.1:p.Val251Ala | |
| XM_011536025.3:c.752T>C | XP_011534327.1:p.Val251Ala | |
| XR_001743546.2:n.782T>C | ||
| XR_001743547.2:n.782T>C | ||
| XR_001743548.2:n.782T>C | ||
| XR_001743549.2:n.782T>C | ||
| XR_002956292.1:n.782T>C | ||
| NM_183050.4:c.752T>C MANE Select | NP_898871.1:p.Val251Ala | |
| NR_134945.2:n.869T>C | ||
| NM_000056.5:c.752T>C | NP_000047.1:p.Val251Ala |