Linked Data
ClinVar Variation Id:
1599329
ClinVar RCV Id:
RCV002115814
dbSNP Id:
rs780621488
ExAC:
4:47408904 T / G
gnomAD v2:
4-47408904-T-G
gnomAD v3:
4-47406887-T-G
gnomAD v4:
4-47406887-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406887T>G , CM000666.2:g.47406887T>G | GRCh38 |
| NC_000004.11:g.47408904T>G , CM000666.1:g.47408904T>G | GRCh37 |
| NC_000004.10:g.47103661T>G | NCBI36 |
| NG_051831.1:g.380610T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1041T>G MANE Select | ENSP00000295454.3:p.Ser347Arg | |
| ENST00000295454.7:c.1041T>G | ENSP00000295454.3:p.Ser347Arg | |
| NM_000812.3:c.1041T>G | NP_000803.2:p.Ser347Arg | |
| XM_011513678.1:c.1020T>G | XP_011511980.1:p.Ser340Arg | |
| XM_017007985.1:c.390T>G | XP_016863474.1:p.Ser130Arg | |
| XM_024453976.1:c.942T>G | XP_024309744.1:p.Ser314Arg | |
| XM_024453977.1:c.942T>G | XP_024309745.1:p.Ser314Arg | |
| XM_024453978.1:c.942T>G | XP_024309746.1:p.Ser314Arg | |
| NM_000812.4:c.1041T>G MANE Select | NP_000803.2:p.Ser347Arg |