Linked Data
dbSNP Id:
rs757150036
ExAC:
8:134145834 T / C
gnomAD v2:
8-134145834-T-C
gnomAD v4:
8-133133590-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133590T>C , CM000670.2:g.133133590T>C | GRCh38 |
| NC_000008.10:g.134145834T>C , CM000670.1:g.134145834T>C | GRCh37 |
| NC_000008.9:g.134215016T>C | NCBI36 |
| NG_015832.1:g.271630T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8118T>C MANE Select | ENSP00000220616.4:p.Asn2706= | |
| ENST00000220616.8:c.8118T>C | ENSP00000220616.4:p.Asn2706= | |
| ENST00000519178.5:c.3484T>C | ||
| ENST00000519543.5:c.2517T>C | ENSP00000430430.1:p.Asn839= | |
| ENST00000521107.1:c.330T>C | ENSP00000430161.1:p.Asn110= | |
| ENST00000522691.1:n.204T>C | ||
| ENST00000523756.5:c.4773T>C | ||
| NM_003235.4:c.8118T>C | NP_003226.4:p.Asn2706= | |
| XM_005251038.3:c.7926T>C | XP_005251095.1:p.Asn2642= | |
| XM_006716622.2:c.8055T>C | XP_006716685.1:p.Asn2685= | |
| XM_005251038.4:c.7926T>C | XP_005251095.1:p.Asn2642= | |
| XM_006716622.3:c.8055T>C | XP_006716685.1:p.Asn2685= | |
| XM_017013793.1:c.8052T>C | XP_016869282.1:p.Asn2684= | |
| XM_017013794.1:c.7983T>C | XP_016869283.1:p.Asn2661= | |
| XM_017013795.1:c.7947T>C | XP_016869284.1:p.Asn2649= | |
| XM_017013796.1:c.7899T>C | XP_016869285.1:p.Asn2633= | |
| XM_017013797.1:c.7857T>C | XP_016869286.1:p.Asn2619= | |
| NM_003235.5:c.8118T>C MANE Select | NP_003226.4:p.Asn2706= |