Linked Data
ClinVar Variation Id:
423241
dbSNP Id:
rs201083070
ExAC:
4:5667360 C / G
gnomAD v2:
4-5667360-C-G
gnomAD v3:
4-5665633-C-G
gnomAD v4:
4-5665633-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5665633C>G , CM000666.2:g.5665633C>G | GRCh38 |
| NC_000004.11:g.5667360C>G , CM000666.1:g.5667360C>G | GRCh37 |
| NC_000004.10:g.5718261C>G | NCBI36 |
| NG_015821.1:g.48916G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.887G>C MANE Select | ENSP00000342144.5:p.Gly296Ala | |
| ENST00000310917.6:c.647G>C | ENSP00000311683.2:p.Gly216Ala | |
| ENST00000344408.9:c.887G>C | ENSP00000342144.5:p.Gly296Ala | |
| ENST00000475313.5:c.647G>C | ENSP00000431981.1:p.Gly216Ala | |
| ENST00000509670.1:c.647G>C | ENSP00000423876.1:p.Gly216Ala | |
| NM_001166136.1:c.647G>C | NP_001159608.1:p.Gly216Ala | |
| NM_147127.4:c.887G>C | NP_667338.3:p.Gly296Ala | |
| XM_011513392.1:c.887G>C | XP_011511694.1:p.Gly296Ala | |
| XM_011513393.1:c.887G>C | XP_011511695.1:p.Gly296Ala | |
| XM_011513394.1:c.647G>C | XP_011511696.1:p.Gly216Ala | |
| XM_017007736.1:c.647G>C | XP_016863225.1:p.Gly216Ala | |
| XM_017007737.1:c.647G>C | XP_016863226.1:p.Gly216Ala | |
| XM_017007738.1:c.887G>C | XP_016863227.1:p.Gly296Ala | |
| XM_017007739.1:c.-786G>C | XP_016863228.1:n.-786G>C | |
| XM_024453893.1:c.-890G>C | XP_024309661.1:n.-890G>C | |
| XR_001741141.1:n.952G>C | ||
| NM_147127.5:c.887G>C MANE Select | NP_667338.3:p.Gly296Ala | |
| NM_001166136.2:c.647G>C | NP_001159608.1:p.Gly216Ala |