Linked Data
ClinVar Variation Id:
2710792
ClinVar RCV Id:
RCV003510761
MyVariant Identifiers:
chr6:g.35423534T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35455757T>C , CM000668.2:g.35455757T>C | GRCh38 |
| NC_000006.11:g.35423534T>C , CM000668.1:g.35423534T>C | GRCh37 |
| NC_000006.10:g.35531512T>C | NCBI36 |
| NG_011708.1:g.8397T>C , LRG_498:g.8397T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.259T>C | ENSP00000512511.1:p.Leu87= | |
| ENST00000696265.1:c.259T>C | ENSP00000512512.1:p.Leu87= | |
| ENST00000229769.3:c.259T>C MANE Select | ENSP00000229769.2:p.Leu87= | |
| ENST00000648059.1:c.259T>C | ENSP00000497902.1:p.Leu87= | |
| ENST00000229769.2:c.259T>C | ENSP00000229769.2:p.Leu87= | |
| NM_021922.2:c.259T>C , LRG_498t1:c.259T>C | NP_068741.1:p.Leu87= | |
| XM_005248885.2:c.259T>C | XP_005248942.1:p.Leu87= | |
| XM_005248886.2:c.259T>C | XP_005248943.1:p.Leu87= | |
| XM_005248887.2:c.259T>C | XP_005248944.1:p.Leu87= | |
| XM_005248888.2:c.259T>C | XP_005248945.1:p.Leu87= | |
| XM_011514343.1:c.-36T>C | XP_011512645.1:n.-36T>C | |
| XM_011514344.1:c.-36T>C | XP_011512646.1:n.-36T>C | |
| XM_005248888.3:c.259T>C | XP_005248945.1:p.Leu87= | |
| XM_011514343.2:c.-36T>C | XP_011512645.1:n.-36T>C | |
| XR_001743226.1:n.466T>C | ||
| XR_002956267.1:n.466T>C | ||
| NM_021922.3:c.259T>C MANE Select | NP_068741.1:p.Leu87= |