Identifiers and link-outs to other resources
ClinVar Variation Id:
370213
ClinVar RCV Id:
RCV000410234
dbSNP Id:
rs1057516320
gnomAD:
8:90993658 G / A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89981430G>A , CM000670.2:g.89981430G>A | GRCh38 |
| NC_000008.10:g.90993658G>A , CM000670.1:g.90993658G>A | GRCh37 |
| NC_000008.9:g.91062834G>A | NCBI36 |
| NG_008860.1:g.8242C>T , LRG_158:g.8242C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001024688.2:c.19C>T VV | NP_001019859.1:p.Arg7Ter | |
| NM_002485.4:c.265C>T , LRG_158t1:c.265C>T | NP_002476.2:p.Arg89Ter | |
| XM_011517044.1:c.241C>T | XP_011515346.1:p.Arg81Ter | |
| XM_011517045.1:c.19C>T | XP_011515347.1:p.Arg7Ter | |
| XM_011517046.1:c.265C>T | XP_011515348.1:p.Arg89Ter | |
| XR_928335.1:n.402C>T | ||
| XM_017013460.1:c.-705C>T | XP_016868949.1:p.= | |
| XM_017013462.2:c.-511C>T | XP_016868951.1:p.= | |
| XM_024447163.1:c.19C>T | XP_024302931.1:p.Arg7Ter | |
| XM_024447164.1:c.19C>T | XP_024302932.1:p.Arg7Ter | |
| XM_024447165.1:c.-705C>T | XP_024302933.1:p.= | |
| ENST00000265433.7:c.265C>T | ENSP00000265433.3:p.Arg89Ter | |
| ENST00000396252.6:c.*138C>T | ENSP00000379551.2:p.= | |
| ENST00000409330.5:c.19C>T | ENSP00000386924.1:p.Arg7Ter | |
| ENST00000517337.1:c.19C>T | ENSP00000429971.1:p.Arg7Ter | |
| ENST00000517772.5:c.19C>T | ENSP00000428717.1:p.Arg7Ter | |
| ENST00000519426.5:c.265C>T | ENSP00000430983.1:p.Arg89Ter | |
| ENST00000523444.1:c.*138C>T | ENSP00000428252.1:p.= |