Linked Data
ClinVar Variation Id:
542452
ClinVar RCV Id:
RCV000652875
dbSNP Id:
rs1410055577
gnomAD v2:
5-110075014-G-C
gnomAD v3:
5-110739313-G-C
gnomAD v4:
5-110739313-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110739313G>C , CM000667.2:g.110739313G>C | GRCh38 |
| NC_000005.9:g.110075014G>C , CM000667.1:g.110075014G>C | GRCh37 |
| NC_000005.8:g.110102913G>C | NCBI36 |
| NG_051334.1:g.6178G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355943.8:c.194G>C MANE Select | ENSP00000348211.3:p.Gly65Ala | |
| ENST00000355943.7:c.194G>C | ENSP00000348211.3:p.Gly65Ala | |
| ENST00000447245.6:c.194G>C | ENSP00000399717.2:p.Gly65Ala | |
| ENST00000508781.5:n.112+1066G>C | ||
| ENST00000513807.5:c.-204+1066G>C | ENSP00000421134.1:n.-204+1066G>C | |
| NM_001303249.1:c.194G>C | NP_001290178.1:p.Gly65Ala | |
| NM_001303250.1:c.10+1066G>C | NP_001290179.1:n.10+1066G>C | |
| NM_138773.2:c.194G>C | NP_620128.1:p.Gly65Ala | |
| XM_011543708.1:c.194G>C | XP_011542010.1:p.Gly65Ala | |
| NM_001303249.2:c.194G>C | NP_001290178.1:p.Gly65Ala | |
| NM_001303250.2:c.10+1066G>C | NP_001290179.1:n.10+1066G>C | |
| NM_138773.3:c.194G>C | NP_620128.1:p.Gly65Ala | |
| NR_138151.1:n.342G>C | ||
| NM_138773.4:c.194G>C MANE Select | NP_620128.1:p.Gly65Ala | |
| NM_001303249.3:c.194G>C | NP_001290178.1:p.Gly65Ala | |
| NM_001303250.3:c.10+1066G>C | NP_001290179.1:n.10+1066G>C | |
| NR_138151.2:n.307G>C |