Linked Data
ClinVar Variation Id:
1381308
ClinVar RCV Id:
RCV001921924
dbSNP Id:
rs1156410015
gnomAD v3:
15-38351567-T-C
gnomAD v4:
15-38351567-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351567T>C , CM000677.2:g.38351567T>C | GRCh38 |
| NC_000015.9:g.38643768T>C , CM000677.1:g.38643768T>C | GRCh37 |
| NC_000015.8:g.36431060T>C | NCBI36 |
| NG_008980.1:g.103717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1238T>C MANE Select | ENSP00000299084.4:p.Ile413Thr | |
| ENST00000299084.8:c.1238T>C | ENSP00000299084.4:p.Ile413Thr | |
| NM_152594.2:c.1238T>C | NP_689807.1:p.Ile413Thr | |
| XM_005254202.2:c.1274T>C | XP_005254259.1:p.Ile425Thr | |
| XM_005254203.3:c.1016T>C | XP_005254260.1:p.Ile339Thr | |
| XM_011521288.1:c.1175T>C | XP_011519590.1:p.Ile392Thr | |
| XM_011521289.1:c.1175T>C | XP_011519591.1:p.Ile392Thr | |
| XM_011521290.1:c.1175T>C | XP_011519592.1:p.Ile392Thr | |
| XM_005254202.3:c.1274T>C | XP_005254259.1:p.Ile425Thr | |
| XM_011521289.3:c.1175T>C | XP_011519591.1:p.Ile392Thr | |
| NM_152594.3:c.1238T>C MANE Select | NP_689807.1:p.Ile413Thr |