Linked Data
ClinVar Variation Id:
2315569
ClinVar RCV Id:
RCV004163221
dbSNP Id:
rs761520561
ExAC:
15:38643746 G / A
gnomAD v2:
15-38643746-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351545G>A , CM000677.2:g.38351545G>A | GRCh38 |
| NC_000015.9:g.38643746G>A , CM000677.1:g.38643746G>A | GRCh37 |
| NC_000015.8:g.36431038G>A | NCBI36 |
| NG_008980.1:g.103695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1216G>A MANE Select | ENSP00000299084.4:p.Ala406Thr | |
| ENST00000299084.8:c.1216G>A | ENSP00000299084.4:p.Ala406Thr | |
| NM_152594.2:c.1216G>A | NP_689807.1:p.Ala406Thr | |
| XM_005254202.2:c.1252G>A | XP_005254259.1:p.Ala418Thr | |
| XM_005254203.3:c.994G>A | XP_005254260.1:p.Ala332Thr | |
| XM_011521288.1:c.1153G>A | XP_011519590.1:p.Ala385Thr | |
| XM_011521289.1:c.1153G>A | XP_011519591.1:p.Ala385Thr | |
| XM_011521290.1:c.1153G>A | XP_011519592.1:p.Ala385Thr | |
| XM_005254202.3:c.1252G>A | XP_005254259.1:p.Ala418Thr | |
| XM_011521289.3:c.1153G>A | XP_011519591.1:p.Ala385Thr | |
| NM_152594.3:c.1216G>A MANE Select | NP_689807.1:p.Ala406Thr |