Linked Data
ClinVar Variation Id:
1100778
ClinVar RCV Id:
RCV001423513
dbSNP Id:
rs1362535126
MyVariant Identifiers:
chr18:g.21508636T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23928672T>C , CM000680.2:g.23928672T>C | GRCh38 |
| NC_000018.9:g.21508636T>C , CM000680.1:g.21508636T>C | GRCh37 |
| NC_000018.8:g.19762634T>C | NCBI36 |
| NG_007853.2:g.244075T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.3516T>C MANE Plus Clinical | ENSP00000269217.5:p.Thr1172= | |
| ENST00000313654.14:c.8343T>C MANE Select | ENSP00000324532.8:p.Thr2781= | |
| ENST00000649721.1:c.4938T>C | ENSP00000497885.1:p.Thr1646= | |
| ENST00000269217.10:c.3516T>C | ENSP00000269217.5:p.Thr1172= | |
| ENST00000313654.13:c.8343T>C | ENSP00000324532.8:p.Thr2781= | |
| ENST00000399516.7:c.8175T>C | ENSP00000382432.2:p.Thr2725= | |
| ENST00000586751.5:c.3121T>C | ||
| ENST00000587184.5:c.3348T>C | ENSP00000466557.1:p.Thr1116= | |
| ENST00000588164.2:c.48T>C | ENSP00000467473.2:p.Thr16= | |
| ENST00000588770.5:n.2921T>C | ||
| NM_000227.4:c.3516T>C | NP_000218.3:p.Thr1172= | |
| NM_001127717.2:c.8175T>C | NP_001121189.2:p.Thr2725= | |
| NM_001127718.2:c.3348T>C | NP_001121190.2:p.Thr1116= | |
| NM_198129.2:c.8343T>C | NP_937762.2:p.Thr2781= | |
| XM_011525978.1:c.8370T>C | XP_011524280.1:p.Thr2790= | |
| XM_011525979.1:c.8361T>C | XP_011524281.1:p.Thr2787= | |
| XM_011525980.1:c.8352T>C | XP_011524282.1:p.Thr2784= | |
| XM_011525981.1:c.8238T>C | XP_011524283.1:p.Thr2746= | |
| XM_011525982.1:c.8073T>C | XP_011524284.1:p.Thr2691= | |
| XM_011525978.2:c.8370T>C | XP_011524280.1:p.Thr2790= | |
| XM_011525979.2:c.8361T>C | XP_011524281.1:p.Thr2787= | |
| XM_011525980.2:c.8352T>C | XP_011524282.1:p.Thr2784= | |
| XM_011525981.2:c.8238T>C | XP_011524283.1:p.Thr2746= | |
| XM_011525982.2:c.8073T>C | XP_011524284.1:p.Thr2691= | |
| XM_017025743.1:c.6222T>C | XP_016881232.1:p.Thr2074= | |
| XM_017025744.1:c.3912T>C | XP_016881233.1:p.Thr1304= | |
| XR_001753199.1:n.8611T>C | ||
| NM_000227.5:c.3516T>C | NP_000218.3:p.Thr1172= | |
| NM_001127717.3:c.8175T>C | NP_001121189.2:p.Thr2725= | |
| NM_001127718.3:c.3348T>C | NP_001121190.2:p.Thr1116= | |
| NM_198129.3:c.8343T>C | NP_937762.2:p.Thr2781= | |
| NM_000227.6:c.3516T>C MANE Plus Clinical | NP_000218.3:p.Thr1172= | |
| NM_001127717.4:c.8175T>C | NP_001121189.2:p.Thr2725= | |
| NM_001127718.4:c.3348T>C | NP_001121190.2:p.Thr1116= | |
| NM_198129.4:c.8343T>C MANE Select | NP_937762.2:p.Thr2781= |