Linked Data
ClinVar Variation Id:
1961807
dbSNP Id:
rs1475485567
gnomAD v2:
9-126139279-G-C
gnomAD v4:
9-123377000-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123377000G>C , CM000671.2:g.123377000G>C | GRCh38 |
| NC_000009.11:g.126139279G>C , CM000671.1:g.126139279G>C | GRCh37 |
| NC_000009.10:g.125179100G>C | NCBI36 |
| NG_051311.1:g.27936G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.3796G>C MANE Select | ENSP00000362734.3:p.Ala1266Pro | |
| ENST00000373631.7:c.3796G>C | ENSP00000362734.3:p.Ala1266Pro | |
| ENST00000460253.1:c.2800G>C | ENSP00000435279.1:p.Ala934Pro | |
| NM_173689.6:c.3796G>C | NP_775960.4:p.Ala1266Pro | |
| NR_104603.1:n.2910G>C | ||
| XM_005251934.1:c.2800G>C | XP_005251991.1:p.Ala934Pro | |
| XM_011518556.1:c.3769G>C | XP_011516858.1:p.Ala1257Pro | |
| XM_011518557.1:c.3601G>C | XP_011516859.1:p.Ala1201Pro | |
| XM_011518558.1:c.3601G>C | XP_011516860.1:p.Ala1201Pro | |
| XM_005251934.3:c.2800G>C | XP_005251991.1:p.Ala934Pro | |
| XM_011518556.3:c.3769G>C | XP_011516858.1:p.Ala1257Pro | |
| XM_011518557.3:c.3601G>C | XP_011516859.1:p.Ala1201Pro | |
| XM_011518558.3:c.3601G>C | XP_011516860.1:p.Ala1201Pro | |
| NM_173689.7:c.3796G>C MANE Select | NP_775960.4:p.Ala1266Pro | |
| NR_104603.2:n.2910G>C |