Linked Data
ClinVar Variation Id:
1945549
ClinVar RCV Id:
RCV002667240
MyVariant Identifiers:
chr18:g.21508645C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23928681C>T , CM000680.2:g.23928681C>T | GRCh38 |
| NC_000018.9:g.21508645C>T , CM000680.1:g.21508645C>T | GRCh37 |
| NC_000018.8:g.19762643C>T | NCBI36 |
| NG_007853.2:g.244084C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.3525C>T MANE Plus Clinical | ENSP00000269217.5:p.Gly1175= | |
| ENST00000313654.14:c.8352C>T MANE Select | ENSP00000324532.8:p.Gly2784= | |
| ENST00000649721.1:c.4947C>T | ENSP00000497885.1:p.Gly1649= | |
| ENST00000269217.10:c.3525C>T | ENSP00000269217.5:p.Gly1175= | |
| ENST00000313654.13:c.8352C>T | ENSP00000324532.8:p.Gly2784= | |
| ENST00000399516.7:c.8184C>T | ENSP00000382432.2:p.Gly2728= | |
| ENST00000586751.5:c.3130C>T | ||
| ENST00000587184.5:c.3357C>T | ENSP00000466557.1:p.Gly1119= | |
| ENST00000588164.2:c.57C>T | ENSP00000467473.2:p.Gly19= | |
| ENST00000588770.5:n.2930C>T | ||
| NM_000227.4:c.3525C>T | NP_000218.3:p.Gly1175= | |
| NM_001127717.2:c.8184C>T | NP_001121189.2:p.Gly2728= | |
| NM_001127718.2:c.3357C>T | NP_001121190.2:p.Gly1119= | |
| NM_198129.2:c.8352C>T | NP_937762.2:p.Gly2784= | |
| XM_011525978.1:c.8379C>T | XP_011524280.1:p.Gly2793= | |
| XM_011525979.1:c.8370C>T | XP_011524281.1:p.Gly2790= | |
| XM_011525980.1:c.8361C>T | XP_011524282.1:p.Gly2787= | |
| XM_011525981.1:c.8247C>T | XP_011524283.1:p.Gly2749= | |
| XM_011525982.1:c.8082C>T | XP_011524284.1:p.Gly2694= | |
| XM_011525978.2:c.8379C>T | XP_011524280.1:p.Gly2793= | |
| XM_011525979.2:c.8370C>T | XP_011524281.1:p.Gly2790= | |
| XM_011525980.2:c.8361C>T | XP_011524282.1:p.Gly2787= | |
| XM_011525981.2:c.8247C>T | XP_011524283.1:p.Gly2749= | |
| XM_011525982.2:c.8082C>T | XP_011524284.1:p.Gly2694= | |
| XM_017025743.1:c.6231C>T | XP_016881232.1:p.Gly2077= | |
| XM_017025744.1:c.3921C>T | XP_016881233.1:p.Gly1307= | |
| XR_001753199.1:n.8620C>T | ||
| NM_000227.5:c.3525C>T | NP_000218.3:p.Gly1175= | |
| NM_001127717.3:c.8184C>T | NP_001121189.2:p.Gly2728= | |
| NM_001127718.3:c.3357C>T | NP_001121190.2:p.Gly1119= | |
| NM_198129.3:c.8352C>T | NP_937762.2:p.Gly2784= | |
| NM_000227.6:c.3525C>T MANE Plus Clinical | NP_000218.3:p.Gly1175= | |
| NM_001127717.4:c.8184C>T | NP_001121189.2:p.Gly2728= | |
| NM_001127718.4:c.3357C>T | NP_001121190.2:p.Gly1119= | |
| NM_198129.4:c.8352C>T MANE Select | NP_937762.2:p.Gly2784= |