Linked Data
ClinVar Variation Id:
2179281
ClinVar RCV Id:
RCV002615085
dbSNP Id:
rs764060282
ExAC:
2:203407109 T / C
gnomAD v2:
2-203407109-T-C
gnomAD v3:
2-202542386-T-C
gnomAD v4:
2-202542386-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202542386T>C , CM000664.2:g.202542386T>C | GRCh38 |
| NC_000002.11:g.203407109T>C , CM000664.1:g.203407109T>C | GRCh37 |
| NC_000002.10:g.203115354T>C | NCBI36 |
| NG_009363.1:g.171060T>C , LRG_712:g.171060T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1352T>C MANE Select | ENSP00000363708.4:p.Val451Ala | |
| ENST00000638587.1:c.1283T>C | ENSP00000491062.1:p.Val428Ala | |
| ENST00000374574.2:c.1352T>C | ENSP00000363702.2:p.Val451Ala | |
| ENST00000374580.8:c.1352T>C | ENSP00000363708.4:p.Val451Ala | |
| NM_001204.6:c.1352T>C , LRG_712t1:c.1352T>C | NP_001195.2:p.Val451Ala | |
| XM_011511687.1:c.1352T>C | XP_011509989.1:p.Val451Ala | |
| XM_011511688.1:c.1352T>C | XP_011509990.1:p.Val451Ala | |
| NM_001204.7:c.1352T>C MANE Select | NP_001195.2:p.Val451Ala |