Linked Data
ClinVar Variation Id:
3015708
ClinVar RCV Id:
RCV003873795
dbSNP Id:
rs747885215
ExAC:
9:133333811 G / A
gnomAD v2:
9-133333811-G-A
COSMIC:
COSM3654877
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130458424G>A , CM000671.2:g.130458424G>A | GRCh38 |
| NC_000009.11:g.133333811G>A , CM000671.1:g.133333811G>A | GRCh37 |
| NC_000009.10:g.132323632G>A | NCBI36 |
| NG_011542.1:g.18718G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.198G>A MANE Select | ENSP00000253004.6:p.Arg66= | |
| ENST00000352480.9:c.198G>A | ENSP00000253004.6:p.Arg66= | |
| ENST00000372393.7:c.198G>A | ENSP00000361469.2:p.Arg66= | |
| ENST00000372394.5:c.198G>A | ENSP00000361471.1:p.Arg66= | |
| ENST00000422569.5:c.198G>A | ENSP00000394212.1:p.Arg66= | |
| ENST00000443588.1:c.198G>A | ENSP00000397785.1:p.Arg66= | |
| NM_000050.4:c.198G>A | NP_000041.2:p.Arg66= | |
| NM_054012.3:c.198G>A | NP_446464.1:p.Arg66= | |
| XM_005272200.2:c.198G>A | XP_005272257.1:p.Arg66= | |
| XM_011518705.1:c.312G>A | XP_011517007.1:p.Arg104= | |
| XM_005272200.3:c.198G>A | XP_005272257.1:p.Arg66= | |
| XM_011518705.2:c.312G>A | XP_011517007.1:p.Arg104= | |
| XM_017014729.1:c.294G>A | XP_016870218.1:p.Arg98= | |
| NM_054012.4:c.198G>A MANE Select | NP_446464.1:p.Arg66= |