Linked Data
ClinVar Variation Id:
1453966
ClinVar RCV Id:
RCV001941639
dbSNP Id:
rs1085307208
gnomAD v4:
2-202467591-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202467591C>A , CM000664.2:g.202467591C>A | GRCh38 |
| NC_000002.11:g.203332314C>A , CM000664.1:g.203332314C>A | GRCh37 |
| NC_000002.10:g.203040559C>A | NCBI36 |
| NG_009363.1:g.96265C>A , LRG_712:g.96265C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.320C>A MANE Select | ENSP00000363708.4:p.Ser107Ter | |
| ENST00000638587.1:c.251C>A | ENSP00000491062.1:p.Ser84Ter | |
| ENST00000374574.2:c.320C>A | ENSP00000363702.2:p.Ser107Ter | |
| ENST00000374580.8:c.320C>A | ENSP00000363708.4:p.Ser107Ter | |
| ENST00000479069.1:n.227C>A | ||
| NM_001204.6:c.320C>A , LRG_712t1:c.320C>A | NP_001195.2:p.Ser107Ter | |
| XM_011511687.1:c.320C>A | XP_011509989.1:p.Ser107Ter | |
| XM_011511688.1:c.320C>A | XP_011509990.1:p.Ser107Ter | |
| NM_001204.7:c.320C>A MANE Select | NP_001195.2:p.Ser107Ter |