Linked Data
ClinVar Variation Id:
2194080
ClinVar RCV Id:
RCV002647323
dbSNP Id:
rs901229794
gnomAD v2:
13-110822022-G-A
gnomAD v3:
13-110169675-G-A
gnomAD v4:
13-110169675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169675G>A , CM000675.2:g.110169675G>A | GRCh38 |
| NC_000013.10:g.110822022G>A , CM000675.1:g.110822022G>A | GRCh37 |
| NC_000013.9:g.109620023G>A | NCBI36 |
| NG_011544.2:g.142475C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3830C>T MANE Select | ENSP00000364979.4:p.Pro1277Leu | |
| ENST00000375820.8:c.3830C>T | ENSP00000364979.4:p.Pro1277Leu | |
| NM_001845.5:c.3830C>T | NP_001836.3:p.Pro1277Leu | |
| XM_011521048.1:c.3638C>T | XP_011519350.1:p.Pro1213Leu | |
| XM_011521048.2:c.3638C>T | XP_011519350.1:p.Pro1213Leu | |
| NM_001845.6:c.3830C>T MANE Select | NP_001836.3:p.Pro1277Leu |