Linked Data
dbSNP Id:
rs897123131
gnomAD v2:
8-134145900-T-C
gnomAD v3:
8-133133656-T-C
gnomAD v4:
8-133133656-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133656T>C , CM000670.2:g.133133656T>C | GRCh38 |
| NC_000008.10:g.134145900T>C , CM000670.1:g.134145900T>C | GRCh37 |
| NC_000008.9:g.134215082T>C | NCBI36 |
| NG_015832.1:g.271696T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8184T>C MANE Select | ENSP00000220616.4:p.Ser2728= | |
| ENST00000220616.8:c.8184T>C | ENSP00000220616.4:p.Ser2728= | |
| ENST00000519178.5:c.3550T>C | ||
| ENST00000519543.5:c.2583T>C | ENSP00000430430.1:p.Ser861= | |
| ENST00000521107.1:c.396T>C | ENSP00000430161.1:p.Ser132= | |
| ENST00000522691.1:n.270T>C | ||
| ENST00000523756.5:c.4839T>C | ||
| NM_003235.4:c.8184T>C | NP_003226.4:p.Ser2728= | |
| XM_005251038.3:c.7992T>C | XP_005251095.1:p.Ser2664= | |
| XM_006716622.2:c.8121T>C | XP_006716685.1:p.Ser2707= | |
| XM_005251038.4:c.7992T>C | XP_005251095.1:p.Ser2664= | |
| XM_006716622.3:c.8121T>C | XP_006716685.1:p.Ser2707= | |
| XM_017013793.1:c.8118T>C | XP_016869282.1:p.Ser2706= | |
| XM_017013794.1:c.8049T>C | XP_016869283.1:p.Ser2683= | |
| XM_017013795.1:c.8013T>C | XP_016869284.1:p.Ser2671= | |
| XM_017013796.1:c.7965T>C | XP_016869285.1:p.Ser2655= | |
| XM_017013797.1:c.7923T>C | XP_016869286.1:p.Ser2641= | |
| NM_003235.5:c.8184T>C MANE Select | NP_003226.4:p.Ser2728= |