Linked Data
ClinVar Variation Id:
30556
ClinVar RCV Id:
RCV000023514
RCV000023515
RCV000200668
RCV000605882
RCV000623116
RCV001542531
RCV002280094
dbSNP Id:
rs387906930
gnomAD v2:
4-6303573-C-T
gnomAD v4:
4-6301846-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301846C>T , CM000666.2:g.6301846C>T | GRCh38 |
| NC_000004.11:g.6303573C>T , CM000666.1:g.6303573C>T | GRCh37 |
| NC_000004.10:g.6354474C>T | NCBI36 |
| NG_011700.1:g.36997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2087C>T | ENSP00000507852.1:p.Ala696Val | |
| ENST00000683395.1:c.2028C>T | ||
| ENST00000684087.1:c.2051C>T | ENSP00000506978.1:p.Ala684Val | |
| ENST00000506362.2:c.1802C>T | ENSP00000424103.2:p.Ala601Val | |
| ENST00000673642.1:c.1710C>T | ENSP00000501242.1:n.1710C>T | |
| ENST00000673991.1:c.2087C>T | ENSP00000501033.1:p.Ala696Val | |
| ENST00000226760.5:c.2051C>T MANE Select | ENSP00000226760.1:p.Ala684Val | |
| ENST00000503569.5:c.2051C>T | ENSP00000423337.1:p.Ala684Val | |
| ENST00000507765.1:n.2236C>T | ||
| NM_001145853.1:c.2051C>T | NP_001139325.1:p.Ala684Val | |
| NM_006005.3:c.2051C>T MANE Select | NP_005996.2:p.Ala684Val | |
| XM_017008586.1:c.2060C>T | XP_016864075.1:p.Ala687Val |