Linked Data
ClinVar Variation Id:
2930749
ClinVar RCV Id:
RCV003790059
dbSNP Id:
rs1293155742
gnomAD v4:
X-139561927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561927C>T , CM000685.2:g.139561927C>T | GRCh38 |
| NC_000023.10:g.138644086C>T , CM000685.1:g.138644086C>T | GRCh37 |
| NC_000023.9:g.138471752C>T | NCBI36 |
| NG_007994.1:g.36192C>T , LRG_556:g.36192C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.1242C>T MANE Select | ENSP00000218099.2:p.Pro414= | |
| ENST00000643157.1:n.1723+186C>T | ||
| ENST00000218099.6:c.1242C>T | ENSP00000218099.2:p.Pro414= | |
| ENST00000394090.2:c.1128C>T | ENSP00000377650.2:p.Pro376= | |
| NM_000133.3:c.1242C>T , LRG_556t1:c.1242C>T | NP_000124.1:p.Pro414= | |
| NM_001313913.1:c.1128C>T | NP_001300842.1:p.Pro376= | |
| XM_005262397.3:c.1113C>T | XP_005262454.1:p.Pro371= | |
| XM_005262397.4:c.1113C>T | XP_005262454.1:p.Pro371= | |
| NM_000133.4:c.1242C>T MANE Select | NP_000124.1:p.Pro414= | |
| NM_001313913.2:c.1128C>T | NP_001300842.1:p.Pro376= |