Linked Data
dbSNP Id:
rs780605493
ExAC:
13:110822031 G / C
gnomAD v2:
13-110822031-G-C
gnomAD v4:
13-110169684-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169684G>C , CM000675.2:g.110169684G>C | GRCh38 |
| NC_000013.10:g.110822031G>C , CM000675.1:g.110822031G>C | GRCh37 |
| NC_000013.9:g.109620032G>C | NCBI36 |
| NG_011544.2:g.142466C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3821C>G MANE Select | ENSP00000364979.4:p.Pro1274Arg | |
| ENST00000375820.8:c.3821C>G | ENSP00000364979.4:p.Pro1274Arg | |
| NM_001845.5:c.3821C>G | NP_001836.3:p.Pro1274Arg | |
| XM_011521048.1:c.3629C>G | XP_011519350.1:p.Pro1210Arg | |
| XM_011521048.2:c.3629C>G | XP_011519350.1:p.Pro1210Arg | |
| NM_001845.6:c.3821C>G MANE Select | NP_001836.3:p.Pro1274Arg |