Linked Data
dbSNP Id:
rs145170543
ExAC:
22:50659000 C / A
gnomAD v2:
22-50659000-C-A
gnomAD v3:
22-50220571-C-A
gnomAD v4:
22-50220571-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220571C>A , CM000684.2:g.50220571C>A | GRCh38 |
| NC_000022.10:g.50659000C>A , CM000684.1:g.50659000C>A | GRCh37 |
| NC_000022.9:g.49001127C>A | NCBI36 |
| NG_032160.1:g.29401G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3788G>T MANE Select | ENSP00000248846.5:p.Arg1263Leu | |
| ENST00000248846.9:c.3788G>T | ENSP00000248846.5:p.Arg1263Leu | |
| ENST00000439308.6:c.3788G>T | ENSP00000397387.2:p.Arg1263Leu | |
| ENST00000491449.5:n.2095G>T | ||
| ENST00000498611.5:n.3618-556G>T | ||
| NM_020461.3:c.3788G>T | NP_065194.2:p.Arg1263Leu | |
| XR_938347.1:n.4353G>T | ||
| XR_938348.1:n.3050-556G>T | ||
| XR_001755343.2:n.4357G>T | ||
| XR_001755344.2:n.4357G>T | ||
| XR_002958720.1:n.3054-556G>T | ||
| XR_938347.2:n.4357G>T | ||
| NM_020461.4:c.3788G>T MANE Select | NP_065194.3:p.Arg1263Leu |