Linked Data
ClinVar Variation Id:
515410
dbSNP Id:
rs746822140
gnomAD v2:
1-6531799-C-T
gnomAD v4:
1-6471739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6471739C>T , CM000663.2:g.6471739C>T | GRCh38 |
| NC_000001.10:g.6531799C>T , CM000663.1:g.6531799C>T | GRCh37 |
| NC_000001.9:g.6454386C>T | NCBI36 |
| NG_007978.1:g.53271G>A , LRG_262:g.53271G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.1131+19G>A | ENSP00000344570.5:n.1131+19G>A | |
| ENST00000377728.8:c.1131+19G>A MANE Select | ENSP00000366957.3:n.1131+19G>A | |
| ENST00000377740.5:c.1131+19G>A | ENSP00000366969.4:n.1131+19G>A | |
| ENST00000377748.6:c.1305+19G>A | ENSP00000366977.2:n.1305+19G>A | |
| ENST00000400913.6:c.1131+19G>A | ENSP00000383704.1:n.1131+19G>A | |
| ENST00000400915.8:c.1242+19G>A | ENSP00000383706.4:n.1242+19G>A | |
| ENST00000489097.6:n.1607+19G>A | ||
| ENST00000535355.6:c.1338+19G>A | ENSP00000441445.1:n.1338+19G>A | |
| ENST00000537245.6:c.1242+19G>A | ENSP00000439625.2:n.1242+19G>A | |
| ENST00000673471.2:c.1428+19G>A | ENSP00000500749.1:n.1428+19G>A | |
| ENST00000674685.1:n.164+19G>A | ||
| ENST00000674790.1:c.*1343+19G>A | ENSP00000502815.1:n.*1343+19G>A | |
| ENST00000675123.1:c.1131+19G>A | ENSP00000502132.1:n.1131+19G>A | |
| ENST00000675548.1:c.*959+19G>A | ENSP00000502684.1:n.*959+19G>A | |
| ENST00000675694.1:c.1131+19G>A | ENSP00000501925.1:n.1131+19G>A | |
| ENST00000340850.9:c.1131+19G>A | ENSP00000344570.5:n.1131+19G>A | |
| ENST00000377725.5:c.1131+19G>A | ENSP00000366954.1:n.1131+19G>A | |
| ENST00000377728.7:c.1131+19G>A | ENSP00000366957.3:n.1131+19G>A | |
| ENST00000377732.5:c.1242+19G>A | ENSP00000366961.1:n.1242+19G>A | |
| ENST00000377740.4:c.1362+19G>A | ENSP00000366969.3:n.1362+19G>A | |
| ENST00000377748.5:c.1362+19G>A | ENSP00000366977.1:n.1362+19G>A | |
| ENST00000400913.5:c.1131+19G>A | ENSP00000383704.1:n.1131+19G>A | |
| ENST00000400915.7:c.1299+19G>A | ENSP00000383706.3:n.1299+19G>A | |
| ENST00000489097.5:n.1607+19G>A | ||
| ENST00000535355.5:c.1338+19G>A | ENSP00000441445.1:n.1338+19G>A | |
| ENST00000537245.5:c.1368+19G>A | ENSP00000439625.1:n.1368+19G>A | |
| NM_001042663.1:c.1299+19G>A | NP_001036128.1:n.1299+19G>A | |
| NM_001042664.1:c.1131+19G>A | NP_001036129.1:n.1131+19G>A | |
| NM_001042665.1:c.1131+19G>A | NP_001036130.1:n.1131+19G>A | |
| NM_001265592.1:c.1368+19G>A | NP_001252521.1:n.1368+19G>A | |
| NM_001265593.1:c.1338+19G>A | NP_001252522.1:n.1338+19G>A | |
| NM_001265594.1:c.1131+19G>A | NP_001252523.1:n.1131+19G>A | |
| NM_020631.4:c.1131+19G>A | NP_065682.2:n.1131+19G>A | |
| NM_198681.3:c.1362+19G>A | NP_941374.2:n.1362+19G>A | |
| NM_001042663.2:c.1299+19G>A | NP_001036128.1:n.1299+19G>A | |
| NM_001265594.2:c.1131+19G>A | NP_001252523.1:n.1131+19G>A | |
| NM_020631.5:c.1131+19G>A | NP_065682.2:n.1131+19G>A | |
| NM_001042663.3:c.1242+19G>A | NP_001036128.2:n.1242+19G>A | |
| NM_001265592.2:c.1242+19G>A | NP_001252521.2:n.1242+19G>A | |
| NM_020631.6:c.1131+19G>A MANE Select | NP_065682.2:n.1131+19G>A | |
| NM_198681.4:c.1131+19G>A | NP_941374.3:n.1131+19G>A |