Linked Data
ClinVar Variation Id:
866629
ClinVar RCV Id:
RCV001074783
dbSNP Id:
rs1167933684
gnomAD v4:
1-197421468-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421468A>C , CM000663.2:g.197421468A>C | GRCh38 |
| NC_000001.10:g.197390598A>C , CM000663.1:g.197390598A>C | GRCh37 |
| NC_000001.9:g.195657221A>C | NCBI36 |
| NG_008483.1:g.158191A>C | |
| NG_008483.2:g.225007A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1640A>C MANE Select | ENSP00000356370.3:p.Gln547Pro | |
| ENST00000638467.1:c.1640A>C | ENSP00000491102.1:p.Gln547Pro | |
| ENST00000681519.1:c.521A>C | ENSP00000505267.1:p.Gln174Pro | |
| ENST00000367397.1:c.-218A>C | ENSP00000356367.1:n.-218A>C | |
| ENST00000367399.6:c.1304A>C | ENSP00000356369.2:p.Gln435Pro | |
| ENST00000367400.7:c.1640A>C | ENSP00000356370.3:p.Gln547Pro | |
| ENST00000484075.5:c.1640A>C | ENSP00000433932.1:p.Gln547Pro | |
| ENST00000535699.5:c.1433A>C | ENSP00000438786.1:p.Gln478Pro | |
| ENST00000538660.5:c.1640A>C | ENSP00000438091.1:p.Gln547Pro | |
| NM_001193640.1:c.1304A>C | NP_001180569.1:p.Gln435Pro | |
| NM_001257965.1:c.1433A>C | NP_001244894.1:p.Gln478Pro | |
| NM_001257966.1:c.1640A>C | NP_001244895.1:p.Gln547Pro | |
| NM_201253.2:c.1640A>C | NP_957705.1:p.Gln547Pro | |
| NR_047563.1:n.1849A>C | ||
| NR_047564.1:n.1849A>C | ||
| XM_011509365.1:c.1640A>C | XP_011507667.1:p.Gln547Pro | |
| XM_011509366.1:c.1640A>C | XP_011507668.1:p.Gln547Pro | |
| XM_011509367.1:c.1640A>C | XP_011507669.1:p.Gln547Pro | |
| XM_011509368.1:c.1058A>C | XP_011507670.1:p.Gln353Pro | |
| XM_011509369.1:c.83A>C | XP_011507671.1:p.Gln28Pro | |
| XM_011509365.2:c.1640A>C | XP_011507667.1:p.Gln547Pro | |
| XM_011509369.2:c.83A>C | XP_011507671.1:p.Gln28Pro | |
| XM_017000851.1:c.797A>C | XP_016856340.1:p.Gln266Pro | |
| XM_017000852.1:c.1640A>C | XP_016856341.1:p.Gln547Pro | |
| NM_201253.3:c.1640A>C MANE Select | NP_957705.1:p.Gln547Pro | |
| NM_001193640.2:c.1304A>C | NP_001180569.1:p.Gln435Pro | |
| NM_001257965.2:c.1433A>C | NP_001244894.1:p.Gln478Pro | |
| NR_047563.2:n.1801A>C | ||
| NR_047564.2:n.1801A>C | ||
| NM_001257966.2:c.1640A>C | NP_001244895.1:p.Gln547Pro |