Linked Data
dbSNP Id:
rs144354024
ExAC:
19:50333119 C / G
gnomAD v2:
19-50333119-C-G
gnomAD v4:
19-49829862-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49829862C>G , CM000681.2:g.49829862C>G | GRCh38 |
| NC_000019.9:g.50333119C>G , CM000681.1:g.50333119C>G | GRCh37 |
| NC_000019.8:g.55024931C>G | NCBI36 |
| NG_017091.1:g.16584C>G , LRG_368:g.16584C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.602C>G | ENSP00000470692.3:p.Pro201Arg | |
| ENST00000312865.10:c.602C>G MANE Select | ENSP00000326767.5:p.Pro201Arg | |
| ENST00000538643.5:c.181-649C>G | ENSP00000437496.1:n.181-649C>G | |
| ENST00000595185.5:c.602C>G | ENSP00000470027.1:p.Pro201Arg | |
| ENST00000612791.4:c.601-1C>G | ENSP00000479851.1:n.601-1C>G | |
| ENST00000612854.4:c.450+847C>G | ENSP00000482155.1:n.450+847C>G | |
| ENST00000617849.4:c.158-877C>G | ENSP00000484882.1:n.158-877C>G | |
| ENST00000618715.4:c.158-876C>G | ENSP00000480731.1:n.158-876C>G | |
| ENST00000620467.4:c.602C>G | ENSP00000482659.1:p.Pro201Arg | |
| ENST00000622402.4:c.146-5965C>G | ENSP00000478074.1:n.146-5965C>G | |
| NM_030973.3:c.602C>G , LRG_368t1:c.602C>G | NP_112235.2:p.Pro201Arg | |
| XM_011527353.1:c.602C>G | XP_011525655.1:p.Pro201Arg | |
| NM_001378355.1:c.602C>G | NP_001365284.1:p.Pro201Arg | |
| NM_030973.4:c.602C>G MANE Select | NP_112235.2:p.Pro201Arg |