Linked Data
ClinVar Variation Id:
1176275
ClinVar RCV Id:
RCV001531718
dbSNP Id:
rs2130133290
MyVariant Identifiers:
chr8:g.133187700C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132175453C>T , CM000670.2:g.132175453C>T | GRCh38 |
| NC_000008.10:g.133187700C>T , CM000670.1:g.133187700C>T | GRCh37 |
| NC_000008.9:g.133256882C>T | NCBI36 |
| NG_008854.2:g.310305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.933G>A MANE Select | ENSP00000373648.3:p.Leu311= | |
| ENST00000521134.6:c.573G>A | ENSP00000429799.1:p.Leu191= | |
| ENST00000638588.1:c.606G>A | ENSP00000491940.1:p.Leu202= | |
| ENST00000639358.1:c.583G>A | ||
| ENST00000639496.1:c.606G>A | ENSP00000491165.1:p.Leu202= | |
| ENST00000388996.8:c.933G>A | ENSP00000373648.3:p.Leu311= | |
| ENST00000519445.5:c.933G>A | ENSP00000428790.1:p.Leu311= | |
| ENST00000519589.1:n.711G>A | ||
| ENST00000521134.5:c.573G>A | ENSP00000429799.1:p.Leu191= | |
| ENST00000621976.1:c.570G>A | ENSP00000482510.1:p.Leu190= | |
| NM_001204824.1:c.573G>A | NP_001191753.1:p.Leu191= | |
| NM_004519.3:c.933G>A | NP_004510.1:p.Leu311= | |
| XM_005250914.2:c.-224G>A | XP_005250971.1:n.-224G>A | |
| XM_006716555.2:c.225G>A | XP_006716618.1:p.Leu75= | |
| XM_011517026.1:c.573G>A | XP_011515328.1:p.Leu191= | |
| XM_005250914.3:c.-224G>A | XP_005250971.1:n.-224G>A | |
| XM_006716555.3:c.225G>A | XP_006716618.1:p.Leu75= | |
| XM_011517026.2:c.573G>A | XP_011515328.1:p.Leu191= | |
| XM_017013400.1:c.711G>A | XP_016868889.1:p.Leu237= | |
| NM_004519.4:c.933G>A MANE Select | NP_004510.1:p.Leu311= | |
| NM_001204824.2:c.573G>A | NP_001191753.1:p.Leu191= |