Linked Data
ClinVar Variation Id:
696267
dbSNP Id:
rs772748725
ExAC:
8:31030570 C / T
gnomAD v2:
8-31030570-C-T
gnomAD v3:
8-31173054-C-T
gnomAD v4:
8-31173054-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31173054C>T , CM000670.2:g.31173054C>T | GRCh38 |
| NC_000008.10:g.31030570C>T , CM000670.1:g.31030570C>T | GRCh37 |
| NC_000008.9:g.31150112C>T | NCBI36 |
| NG_008870.1:g.144793C>T , LRG_524:g.144793C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.4251C>T MANE Select | ENSP00000298139.5:p.Thr1417= | |
| ENST00000650667.1:c.*3865C>T | ENSP00000498593.1:n.*3865C>T | |
| ENST00000651946.1:n.475C>T | ||
| ENST00000298139.5:c.4251C>T | ENSP00000298139.5:p.Thr1417= | |
| ENST00000521620.5:n.2884C>T | ||
| NM_000553.4:c.4251C>T , LRG_524t1:c.4251C>T | NP_000544.2:p.Thr1417= | |
| XM_011544639.1:c.4170C>T | XP_011542941.1:p.Thr1390= | |
| XM_011544640.1:c.2652C>T | XP_011542942.1:p.Thr884= | |
| XR_949643.1:n.88-1736G>A | ||
| XR_949644.1:n.88-1736G>A | ||
| XR_949645.1:n.88-1736G>A | ||
| XR_949646.1:n.88-1736G>A | ||
| XR_949647.1:n.701-1736G>A | ||
| XR_949648.1:n.603-1736G>A | ||
| NM_000553.5:c.4251C>T | NP_000544.2:p.Thr1417= | |
| XM_011544639.3:c.4170C>T | XP_011542941.1:p.Thr1390= | |
| XM_024447265.1:c.4041C>T | XP_024303033.1:p.Thr1347= | |
| NM_000553.6:c.4251C>T MANE Select | NP_000544.2:p.Thr1417= |