Linked Data
ClinVar Variation Id:
260653
dbSNP Id:
rs151311806
ExAC:
18:2772321 C / T
gnomAD v2:
18-2772321-C-T
gnomAD v3:
18-2772323-C-T
gnomAD v4:
18-2772323-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2772323C>T , CM000680.2:g.2772323C>T | GRCh38 |
| NC_000018.9:g.2772321C>T , CM000680.1:g.2772321C>T | GRCh37 |
| NC_000018.8:g.2762321C>T | NCBI36 |
| NG_031972.1:g.121436C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685656.1:n.1614C>T | ||
| ENST00000686763.1:c.*685C>T | ENSP00000510263.1:n.*685C>T | |
| ENST00000686864.1:c.1888C>T | ||
| ENST00000688342.1:c.4994C>T | ENSP00000508422.1:p.Ser1665Leu | |
| ENST00000688708.1:n.3855C>T | ||
| ENST00000688964.1:n.1826C>T | ||
| ENST00000689034.1:n.3073C>T | ||
| ENST00000693213.1:n.4324C>T | ||
| ENST00000693522.1:n.1667C>T | ||
| ENST00000320876.11:c.5126C>T MANE Select | ENSP00000326603.7:p.Ser1709Leu | |
| ENST00000642953.1:c.28C>T | ||
| ENST00000645355.1:c.1171C>T | ||
| ENST00000320876.10:c.5126C>T | ENSP00000326603.6:p.Ser1709Leu | |
| ENST00000577880.5:c.3539C>T | ENSP00000463049.1:p.Ser1180Leu | |
| ENST00000584897.5:c.2946C>T | ||
| NM_015295.2:c.5126C>T | NP_056110.2:p.Ser1709Leu | |
| XM_011525642.1:c.5126C>T | XP_011523944.1:p.Ser1709Leu | |
| XM_011525643.1:c.5126C>T | XP_011523945.1:p.Ser1709Leu | |
| XM_011525644.1:c.4742C>T | XP_011523946.1:p.Ser1581Leu | |
| XM_011525645.1:c.4562C>T | XP_011523947.1:p.Ser1521Leu | |
| XR_430039.1:n.5315C>T | ||
| XR_935054.1:n.5315C>T | ||
| XR_935055.1:n.5315C>T | ||
| XM_011525643.2:c.5126C>T | XP_011523945.1:p.Ser1709Leu | |
| XM_017025684.1:c.4562C>T | XP_016881173.1:p.Ser1521Leu | |
| XR_001753172.1:n.5315C>T | ||
| XR_001753173.1:n.5315C>T | ||
| XR_001753174.1:n.5315C>T | ||
| XR_001753175.1:n.5315C>T | ||
| XR_001753176.1:n.5315C>T | ||
| XR_001753177.1:n.5227C>T | ||
| XR_001753178.1:n.5235C>T | ||
| XR_935055.2:n.5315C>T | ||
| NM_015295.3:c.5126C>T MANE Select | NP_056110.2:p.Ser1709Leu |