Linked Data
ClinVar Variation Id:
350783
dbSNP Id:
rs774248421
ExAC:
5:127685126 T / C
gnomAD v2:
5-127685126-T-C
gnomAD v3:
5-128349434-T-C
gnomAD v4:
5-128349434-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128349434T>C , CM000667.2:g.128349434T>C | GRCh38 |
| NC_000005.9:g.127685126T>C , CM000667.1:g.127685126T>C | GRCh37 |
| NC_000005.8:g.127713025T>C | NCBI36 |
| NG_008750.1:g.193610A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2902A>G MANE Select | ENSP00000262464.4:p.Asn968Asp | |
| ENST00000262464.8:c.2902A>G | ENSP00000262464.4:p.Asn968Asp | |
| ENST00000508053.5:c.2902A>G | ENSP00000424571.1:p.Asn968Asp | |
| ENST00000508989.5:c.2803A>G | ENSP00000425596.1:p.Asn935Asp | |
| ENST00000619499.4:c.2899A>G | ENSP00000482132.1:p.Asn967Asp | |
| NM_001999.3:c.2902A>G | NP_001990.2:p.Asn968Asp | |
| XM_017009228.2:c.2749A>G | XP_016864717.1:p.Asn917Asp | |
| NM_001999.4:c.2902A>G MANE Select | NP_001990.2:p.Asn968Asp |