Linked Data
ClinVar Variation Id:
1999
dbSNP Id:
rs777759523
ExAC:
17:73832419 C / T
gnomAD v2:
17-73832419-C-T
gnomAD v3:
17-75836338-C-T
gnomAD v4:
17-75836338-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75836338C>T , CM000679.2:g.75836338C>T | GRCh38 |
| NC_000017.10:g.73832419C>T , CM000679.1:g.73832419C>T | GRCh37 |
| NC_000017.9:g.71344014C>T | NCBI36 |
| NG_007266.1:g.13380G>A , LRG_122:g.13380G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699510.1:c.324+1G>A | ENSP00000514405.1:n.324+1G>A | |
| ENST00000699511.1:c.566+1G>A | ||
| ENST00000207549.9:c.1389+1G>A MANE Select | ENSP00000207549.3:n.1389+1G>A | |
| ENST00000207549.8:c.1389+1G>A | ENSP00000207549.3:n.1389+1G>A | |
| ENST00000412096.6:c.1389+1G>A | ENSP00000388093.1:n.1389+1G>A | |
| ENST00000586147.1:c.118-82G>A | ENSP00000466543.1:n.118-82G>A | |
| ENST00000587105.1:c.508+1G>A | ||
| ENST00000591563.5:n.1659+1G>A | ||
| NM_199242.2:c.1389+1G>A , LRG_122t1:c.1389+1G>A | NP_954712.1:n.1389+1G>A | |
| XM_011524504.1:c.1389+1G>A | XP_011522806.1:n.1389+1G>A | |
| XM_011524505.1:c.1389+1G>A | XP_011522807.1:n.1389+1G>A | |
| XM_011524506.1:c.1386+1G>A | XP_011522808.1:n.1386+1G>A | |
| XM_011524507.1:c.780+1G>A | XP_011522809.1:n.780+1G>A | |
| XM_011524508.1:c.780+1G>A | XP_011522810.1:n.780+1G>A | |
| XM_011524504.2:c.1389+1G>A | XP_011522806.1:n.1389+1G>A | |
| XM_011524507.2:c.780+1G>A | XP_011522809.1:n.780+1G>A | |
| XM_024450640.1:c.780+1G>A | XP_024306408.1:n.780+1G>A | |
| NM_199242.3:c.1389+1G>A MANE Select | NP_954712.1:n.1389+1G>A |