Linked Data
ClinVar Variation Id:
315742
ClinVar RCV Id:
RCV000366528
dbSNP Id:
rs185290497
gnomAD v2:
15-38644292-A-T
gnomAD v3:
15-38352091-A-T
gnomAD v4:
15-38352091-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38352091A>T , CM000677.2:g.38352091A>T | GRCh38 |
| NC_000015.9:g.38644292A>T , CM000677.1:g.38644292A>T | GRCh37 |
| NC_000015.8:g.36431584A>T | NCBI36 |
| NG_008980.1:g.104241A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.*427A>T MANE Select | ENSP00000299084.4:n.*427A>T | |
| ENST00000299084.8:c.*427A>T | ENSP00000299084.4:n.*427A>T | |
| NM_152594.2:c.*427A>T | NP_689807.1:n.*427A>T | |
| XM_005254202.2:c.*427A>T | XP_005254259.1:n.*427A>T | |
| XM_005254203.3:c.*427A>T | XP_005254260.1:n.*427A>T | |
| XM_011521288.1:c.*427A>T | XP_011519590.1:n.*427A>T | |
| XM_011521289.1:c.*427A>T | XP_011519591.1:n.*427A>T | |
| XM_011521290.1:c.*427A>T | XP_011519592.1:n.*427A>T | |
| XM_005254202.3:c.*427A>T | XP_005254259.1:n.*427A>T | |
| XM_011521289.3:c.*427A>T | XP_011519591.1:n.*427A>T | |
| NM_152594.3:c.*427A>T MANE Select | NP_689807.1:n.*427A>T |