Linked Data
ClinVar Variation Id:
543038
dbSNP Id:
rs1373333255
gnomAD v2:
11-19206535-T-C
gnomAD v3:
11-19184988-T-C
gnomAD v4:
11-19184988-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19184988T>C , CM000673.2:g.19184988T>C | GRCh38 |
| NC_000011.9:g.19206535T>C , CM000673.1:g.19206535T>C | GRCh37 |
| NC_000011.8:g.19163111T>C | NCBI36 |
| NG_011932.2:g.30586A>G , LRG_440:g.30586A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265968.9:c.472A>G MANE Select | ENSP00000265968.3:p.Asn158Asp | |
| ENST00000533783.2:c.472A>G | ENSP00000431813.1:p.Asn158Asp | |
| ENST00000647990.1:c.339A>G | ENSP00000496798.1:p.Gln113= | |
| ENST00000648719.1:c.170A>G | ENSP00000497633.1:p.Lys57Arg | |
| ENST00000649235.1:c.472A>G | ENSP00000497388.1:p.Asn158Asp | |
| ENST00000649842.1:c.303A>G | ENSP00000497531.1:p.Gln101= | |
| ENST00000265968.7:c.472A>G | ENSP00000265968.3:p.Asn158Asp | |
| ENST00000533783.1:c.472A>G | ENSP00000431813.1:p.Asn158Asp | |
| NM_003476.4:c.472A>G | NP_003467.1:p.Asn158Asp | |
| XM_024448698.1:c.303A>G | XP_024304466.1:p.Gln101= | |
| NM_001369404.1:c.303A>G | NP_001356333.1:p.Gln101= | |
| NM_003476.5:c.472A>G MANE Select | NP_003467.1:p.Asn158Asp |