Linked Data
ClinVar Variation Id:
502643
dbSNP Id:
rs750327663
ExAC:
16:30998300 T / C
gnomAD v2:
16-30998300-T-C
gnomAD v3:
16-30986979-T-C
gnomAD v4:
16-30986979-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30986979T>C , CM000678.2:g.30986979T>C | GRCh38 |
| NC_000016.9:g.30998300T>C , CM000678.1:g.30998300T>C | GRCh37 |
| NC_000016.8:g.30905801T>C | NCBI36 |
| NG_012346.1:g.6782T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297679.10:c.671T>C MANE Select | ENSP00000297679.5:p.Val224Ala | |
| ENST00000262520.10:c.531+275T>C | ENSP00000262520.6:n.531+275T>C | |
| ENST00000297679.9:c.671T>C | ENSP00000297679.5:p.Val224Ala | |
| NM_001142777.1:c.531+275T>C | NP_001136249.1:n.531+275T>C | |
| NM_001142778.1:c.531+275T>C | NP_001136250.1:n.531+275T>C | |
| NM_025193.3:c.671T>C | NP_079469.2:p.Val224Ala | |
| XM_005255601.3:c.671T>C | XP_005255658.2:p.Val224Ala | |
| XM_011545960.1:c.671T>C | XP_011544262.1:p.Val224Ala | |
| XM_011545961.1:c.671T>C | XP_011544263.1:p.Val224Ala | |
| XM_011545962.1:c.531+275T>C | XP_011544264.1:n.531+275T>C | |
| XM_011545960.2:c.671T>C | XP_011544262.1:p.Val224Ala | |
| XM_011545962.2:c.531+275T>C | XP_011544264.1:n.531+275T>C | |
| XM_017023732.1:c.531+275T>C | XP_016879221.1:n.531+275T>C | |
| NM_025193.4:c.671T>C MANE Select | NP_079469.2:p.Val224Ala | |
| NM_001142777.2:c.531+275T>C | NP_001136249.1:n.531+275T>C | |
| NM_001142778.2:c.531+275T>C | NP_001136250.1:n.531+275T>C |