Linked Data
ClinVar Variation Id:
955056
dbSNP Id:
rs199869874
ExAC:
22:50659033 A / G
gnomAD v2:
22-50659033-A-G
gnomAD v3:
22-50220604-A-G
gnomAD v4:
22-50220604-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220604A>G , CM000684.2:g.50220604A>G | GRCh38 |
| NC_000022.10:g.50659033A>G , CM000684.1:g.50659033A>G | GRCh37 |
| NC_000022.9:g.49001160A>G | NCBI36 |
| NG_032160.1:g.29368T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3755T>C MANE Select | ENSP00000248846.5:p.Leu1252Ser | |
| ENST00000248846.9:c.3755T>C | ENSP00000248846.5:p.Leu1252Ser | |
| ENST00000439308.6:c.3755T>C | ENSP00000397387.2:p.Leu1252Ser | |
| ENST00000491449.5:n.2062T>C | ||
| ENST00000498611.5:n.3618-589T>C | ||
| NM_020461.3:c.3755T>C | NP_065194.2:p.Leu1252Ser | |
| XR_938347.1:n.4320T>C | ||
| XR_938348.1:n.3050-589T>C | ||
| XR_001755343.2:n.4324T>C | ||
| XR_001755344.2:n.4324T>C | ||
| XR_002958720.1:n.3054-589T>C | ||
| XR_938347.2:n.4324T>C | ||
| NM_020461.4:c.3755T>C MANE Select | NP_065194.3:p.Leu1252Ser |