Linked Data
ClinVar Variation Id:
1097057
ClinVar RCV Id:
RCV001418519
dbSNP Id:
rs1185658864
gnomAD v4:
1-151813312-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151813312C>T , CM000663.2:g.151813312C>T | GRCh38 |
| NC_000001.10:g.151785788C>T , CM000663.1:g.151785788C>T | GRCh37 |
| NC_000001.9:g.150052412C>T | NCBI36 |
| NG_029118.1:g.23561G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652040.2:c.816G>A | ENSP00000498548.2:p.Arg272= | |
| ENST00000697811.1:c.933+1262G>A | ENSP00000513447.1:n.933+1262G>A | |
| ENST00000697812.1:n.239G>A | ||
| ENST00000697813.1:n.1096G>A | ||
| ENST00000318247.7:c.1101G>A MANE Select | ENSP00000327025.6:p.Arg367= | |
| ENST00000356728.11:c.1038G>A | ENSP00000349164.6:p.Arg346= | |
| ENST00000638901.1:c.1292G>A | ||
| ENST00000651814.1:c.*58G>A | ENSP00000498691.1:n.*58G>A | |
| ENST00000651893.1:c.378G>A | ||
| ENST00000318247.6:c.1101G>A | ENSP00000327025.6:p.Arg367= | |
| ENST00000356728.10:c.1038G>A | ENSP00000349164.6:p.Arg346= | |
| ENST00000480719.1:n.1478G>A | ||
| NM_001001523.1:c.1038G>A | NP_001001523.1:p.Arg346= | |
| NM_005060.3:c.1101G>A | NP_005051.2:p.Arg367= | |
| XM_006711484.2:c.1500G>A | XP_006711547.2:p.Arg500= | |
| XR_426792.2:n.1862G>A | ||
| XM_006711484.4:c.1500G>A | XP_006711547.2:p.Arg500= | |
| NM_005060.4:c.1101G>A MANE Select | NP_005051.2:p.Arg367= | |
| NM_001001523.2:c.1038G>A | NP_001001523.1:p.Arg346= |