Linked Data
ClinVar Variation Id:
1214006
ClinVar RCV Id:
RCV001591949
dbSNP Id:
rs769120898
gnomAD v3:
19-38561140-G-C
gnomAD v4:
19-38561140-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38561140G>C , CM000681.2:g.38561140G>C | GRCh38 |
| NC_000019.9:g.39051780G>C , CM000681.1:g.39051780G>C | GRCh37 |
| NC_000019.8:g.43743620G>C | NCBI36 |
| NG_008866.1:g.132441G>C , LRG_766:g.132441G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000688602.1:c.720G>C | ||
| ENST00000689936.1:c.702G>C | ||
| ENST00000359596.8:c.12310G>C MANE Select | ENSP00000352608.2:p.Gly4104Arg | |
| ENST00000355481.8:c.12295G>C | ENSP00000347667.3:p.Gly4099Arg | |
| ENST00000359596.7:c.12310G>C | ENSP00000352608.2:p.Gly4104Arg | |
| ENST00000360985.7:c.12292G>C | ENSP00000354254.4:p.Gly4098Arg | |
| ENST00000594335.5:c.5679G>C | ||
| NM_000540.2:c.12310G>C , LRG_766t1:c.12310G>C | NP_000531.2:p.Gly4104Arg | |
| NM_001042723.1:c.12295G>C | NP_001036188.1:p.Gly4099Arg | |
| XM_006723317.1:c.12292G>C | XP_006723380.1:p.Gly4098Arg | |
| XM_006723319.1:c.12277G>C | XP_006723382.1:p.Gly4093Arg | |
| XM_011527204.1:c.12307G>C | XP_011525506.1:p.Gly4103Arg | |
| XM_011527205.1:c.12310G>C | XP_011525507.1:p.Gly4104Arg | |
| XM_006723317.2:c.12292G>C | XP_006723380.1:p.Gly4098Arg | |
| XM_006723319.2:c.12277G>C | XP_006723382.1:p.Gly4093Arg | |
| XM_011527205.2:c.12310G>C | XP_011525507.1:p.Gly4104Arg | |
| NM_000540.3:c.12310G>C MANE Select | NP_000531.2:p.Gly4104Arg | |
| NM_001042723.2:c.12295G>C | NP_001036188.1:p.Gly4099Arg |