Linked Data
ClinVar Variation Id:
1589844
ClinVar RCV Id:
RCV002107258
dbSNP Id:
rs59932476
gnomAD v2:
4-3491504-G-C
gnomAD v3:
4-3489777-G-C
gnomAD v4:
4-3489777-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3489777G>C , CM000666.2:g.3489777G>C | GRCh38 |
| NC_000004.11:g.3491504G>C , CM000666.1:g.3491504G>C | GRCh37 |
| NC_000004.10:g.3461302G>C | NCBI36 |
| NG_013072.2:g.31472G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.753G>C MANE Select | ENSP00000344432.5:p.Ala251= | |
| ENST00000643608.1:c.321G>C | ENSP00000495701.1:p.Ala107= | |
| ENST00000340083.5:c.753G>C | ENSP00000344432.5:p.Ala251= | |
| ENST00000503688.5:n.386G>C | ||
| ENST00000507039.5:c.742G>C | ENSP00000423614.1:p.Gly248Arg | |
| ENST00000513995.1:n.411G>C | ||
| ENST00000515886.5:n.521G>C | ||
| NM_001164673.1:c.742G>C | NP_001158145.1:p.Gly248Arg | |
| NM_001256896.1:c.-178G>C | NP_001243825.1:n.-178G>C | |
| NM_001301071.1:c.753G>C | NP_001288000.1:p.Ala251= | |
| NM_173660.4:c.753G>C | NP_775931.3:p.Ala251= | |
| XM_011513435.1:c.753G>C | XP_011511737.1:p.Ala251= | |
| XM_011513436.1:c.753G>C | XP_011511738.1:p.Ala251= | |
| XM_011513437.1:c.339G>C | XP_011511739.1:p.Ala113= | |
| NM_001363811.1:c.321G>C | NP_001350740.1:p.Ala107= | |
| XM_011513435.2:c.753G>C | XP_011511737.1:p.Ala251= | |
| XM_011513437.2:c.339G>C | XP_011511739.1:p.Ala113= | |
| NM_173660.5:c.753G>C MANE Select | NP_775931.3:p.Ala251= | |
| NM_001164673.2:c.742G>C | NP_001158145.1:p.Gly248Arg | |
| NM_001301071.2:c.753G>C | NP_001288000.1:p.Ala251= | |
| NM_001363811.2:c.321G>C | NP_001350740.1:p.Ala107= | |
| NM_001256896.2:c.-178G>C | NP_001243825.1:n.-178G>C |