Linked Data
ClinVar Variation Id:
446252
ClinVar RCV Id:
RCV000656135
dbSNP Id:
rs1201356843
gnomAD v4:
1-197477799-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197477799C>A , CM000663.2:g.197477799C>A | GRCh38 |
| NC_000001.10:g.197446929C>A , CM000663.1:g.197446929C>A | GRCh37 |
| NC_000001.9:g.195713552C>A | NCBI36 |
| NG_008483.1:g.214522C>A | |
| NG_008483.2:g.281338C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.4141C>A MANE Select | ENSP00000356370.3:p.Pro1381Thr | |
| ENST00000367399.6:c.3805C>A | ENSP00000356369.2:p.Pro1269Thr | |
| ENST00000367400.7:c.4141C>A | ENSP00000356370.3:p.Pro1381Thr | |
| ENST00000448952.1:c.375C>A | ENSP00000395407.1:n.375C>A | |
| ENST00000484075.5:c.*252C>A | ENSP00000433932.1:n.*252C>A | |
| ENST00000535699.5:c.4069C>A | ENSP00000438786.1:p.Pro1357Thr | |
| ENST00000538660.5:c.2533C>A | ENSP00000438091.1:p.Pro845Thr | |
| NM_001193640.1:c.3805C>A | NP_001180569.1:p.Pro1269Thr | |
| NM_001257965.1:c.4069C>A | NP_001244894.1:p.Pro1357Thr | |
| NM_001257966.1:c.2533C>A | NP_001244895.1:p.Pro845Thr | |
| NM_201253.2:c.4141C>A | NP_957705.1:p.Pro1381Thr | |
| NR_047563.1:n.4142C>A | ||
| NR_047564.1:n.4592C>A | ||
| XM_011509366.1:c.*246C>A | XP_011507668.1:n.*246C>A | |
| XM_011509367.1:c.*120C>A | XP_011507669.1:n.*120C>A | |
| XM_011509368.1:c.3559C>A | XP_011507670.1:p.Pro1187Thr | |
| XM_011509369.1:c.2584C>A | XP_011507671.1:p.Pro862Thr | |
| XM_011509369.2:c.2584C>A | XP_011507671.1:p.Pro862Thr | |
| XM_017000851.1:c.3298C>A | XP_016856340.1:p.Pro1100Thr | |
| XM_017000852.1:c.4276C>A | XP_016856341.1:p.Pro1426Thr | |
| NM_201253.3:c.4141C>A MANE Select | NP_957705.1:p.Pro1381Thr | |
| NM_001193640.2:c.3805C>A | NP_001180569.1:p.Pro1269Thr | |
| NM_001257965.2:c.4069C>A | NP_001244894.1:p.Pro1357Thr | |
| NR_047563.2:n.4094C>A | ||
| NR_047564.2:n.4544C>A | ||
| NM_001257966.2:c.2533C>A | NP_001244895.1:p.Pro845Thr |