Linked Data
ClinVar Variation Id:
2798805
ClinVar RCV Id:
RCV003676008
MyVariant Identifiers:
chr3:g.48605040C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567607C>G , CM000665.2:g.48567607C>G | GRCh38 |
| NC_000003.11:g.48605040C>G , CM000665.1:g.48605040C>G | GRCh37 |
| NC_000003.10:g.48580044C>G | NCBI36 |
| NG_007065.1:g.32646G>C , LRG_286:g.32646G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.8013G>C MANE Select | ENSP00000506558.1:p.Gly2671= | |
| ENST00000328333.12:c.8013G>C | ENSP00000332371.8:p.Gly2671= | |
| ENST00000487017.5:n.4652G>C | ||
| NM_000094.3:c.8013G>C , LRG_286t1:c.8013G>C | NP_000085.1:p.Gly2671= | |
| XM_011533336.1:c.8040G>C | XP_011531638.1:p.Gly2680= | |
| XM_011533337.1:c.8013G>C | XP_011531639.1:p.Gly2671= | |
| XM_011533338.1:c.7980G>C | XP_011531640.1:p.Gly2660= | |
| XR_940369.1:n.8076G>C | ||
| XR_940370.1:n.8076G>C | ||
| XR_940371.1:n.8076G>C | ||
| XM_017005688.1:c.7953G>C | XP_016861177.1:p.Gly2651= | |
| XR_001740003.1:n.8049G>C | ||
| XR_001740004.1:n.8049G>C | ||
| XR_001740005.1:n.8049G>C | ||
| NM_000094.4:c.8013G>C MANE Select | NP_000085.1:p.Gly2671= |