Linked Data
ClinVar Variation Id:
191370
ClinVar RCV Id:
RCV000171552
dbSNP Id:
rs786205858
PubMed:
PMID:25168386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27457760A>T , CM000664.2:g.27457760A>T | GRCh38 |
| NC_000002.11:g.27680627A>T , CM000664.1:g.27680627A>T | GRCh37 |
| NC_000002.10:g.27534131A>T | NCBI36 |
| NG_034068.1:g.37052T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.3112-5T>A MANE Select | ENSP00000260570.3:n.3112-5T>A | |
| ENST00000674701.1:c.*2434-5T>A | ENSP00000502275.1:n.*2434-5T>A | |
| ENST00000674824.1:c.*1127-5T>A | ENSP00000501824.1:n.*1127-5T>A | |
| ENST00000674932.1:c.*3367-5T>A | ENSP00000501967.1:n.*3367-5T>A | |
| ENST00000675410.1:c.*792-5T>A | ENSP00000502030.1:n.*792-5T>A | |
| ENST00000675690.1:c.3046-5T>A | ENSP00000502283.1:n.3046-5T>A | |
| ENST00000676119.1:c.*2402-5T>A | ENSP00000501701.1:n.*2402-5T>A | |
| ENST00000260570.7:c.3112-5T>A | ENSP00000260570.3:n.3112-5T>A | |
| ENST00000507184.5:n.3393-5T>A | ||
| NM_015662.2:c.3112-5T>A | NP_056477.1:n.3112-5T>A | |
| XM_005264254.1:c.3046-5T>A | XP_005264311.1:n.3046-5T>A | |
| XM_006711986.2:c.3049-5T>A | XP_006712049.1:n.3049-5T>A | |
| XM_006711987.1:c.3112-5T>A | XP_006712050.1:n.3112-5T>A | |
| XM_011532757.1:c.2431-5T>A | XP_011531059.1:n.2431-5T>A | |
| XM_011532758.1:c.3112-5T>A | XP_011531060.1:n.3112-5T>A | |
| XM_011532759.1:c.1552-5T>A | XP_011531061.1:n.1552-5T>A | |
| XM_011532760.1:c.1177-5T>A | XP_011531062.1:n.1177-5T>A | |
| XM_006711986.3:c.3049-5T>A | XP_006712049.1:n.3049-5T>A | |
| XM_011532757.2:c.2431-5T>A | XP_011531059.1:n.2431-5T>A | |
| XM_011532759.2:c.1552-5T>A | XP_011531061.1:n.1552-5T>A | |
| XM_011532760.2:c.1177-5T>A | XP_011531062.1:n.1177-5T>A | |
| XM_017003790.1:c.2983-5T>A | XP_016859279.1:n.2983-5T>A | |
| XM_017003791.1:c.2431-5T>A | XP_016859280.1:n.2431-5T>A | |
| XM_017003792.1:c.3112-5T>A | XP_016859281.1:n.3112-5T>A | |
| XM_017003793.1:c.1249-5T>A | XP_016859282.1:n.1249-5T>A | |
| XM_017003794.1:c.1249-5T>A | XP_016859283.1:n.1249-5T>A | |
| XM_017003795.1:c.1045-5T>A | XP_016859284.1:n.1045-5T>A | |
| XR_001738698.1:n.3167-5T>A | ||
| NM_015662.3:c.3112-5T>A MANE Select | NP_056477.1:n.3112-5T>A |