Linked Data
ClinVar Variation Id:
516146
ClinVar RCV Id:
RCV000956319
dbSNP Id:
rs148025694
ExAC:
5:145508229 C / A
gnomAD v2:
5-145508229-C-A
gnomAD v3:
5-146128666-C-A
gnomAD v4:
5-146128666-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146128666C>A , CM000667.2:g.146128666C>A | GRCh38 |
| NC_000005.9:g.145508229C>A , CM000667.1:g.145508229C>A | GRCh37 |
| NC_000005.8:g.145488422C>A | NCBI36 |
| NG_042294.1:g.59066G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.2880+6G>T MANE Select | ENSP00000377954.2:n.2880+6G>T | |
| ENST00000504323.6:n.3310+6G>T | ||
| ENST00000506231.6:n.5762+6G>T | ||
| ENST00000674158.1:c.2499+6G>T | ENSP00000501474.1:n.2499+6G>T | |
| ENST00000674170.1:c.*1318+6G>T | ENSP00000501381.1:n.*1318+6G>T | |
| ENST00000674174.1:c.2718+6G>T | ENSP00000501434.1:n.2718+6G>T | |
| ENST00000674181.1:c.1127+6G>T | ||
| ENST00000674191.1:c.2424+6G>T | ENSP00000501478.1:n.2424+6G>T | |
| ENST00000674218.1:n.5667+6G>T | ||
| ENST00000674270.1:c.2742+6G>T | ENSP00000501365.1:n.2742+6G>T | |
| ENST00000674277.1:c.2715+6G>T | ENSP00000501510.1:n.2715+6G>T | |
| ENST00000674290.1:c.2844+6G>T | ENSP00000501435.1:n.2844+6G>T | |
| ENST00000674309.1:c.*236+6G>T | ENSP00000501400.1:n.*236+6G>T | |
| ENST00000674310.1:c.2880+6G>T | ENSP00000501486.1:n.2880+6G>T | |
| ENST00000674383.1:n.5533+6G>T | ||
| ENST00000674398.1:c.2877+6G>T | ENSP00000501476.1:n.2877+6G>T | |
| ENST00000674447.1:c.2799+6G>T | ENSP00000501376.1:n.2799+6G>T | |
| ENST00000674467.1:c.*802+6G>T | ENSP00000501351.1:n.*802+6G>T | |
| ENST00000674471.1:n.3148+6G>T | ||
| ENST00000674479.1:n.3917+6G>T | ||
| ENST00000274562.13:c.807+6G>T | ENSP00000274562.10:n.807+6G>T | |
| ENST00000394434.6:c.2880+6G>T | ENSP00000377954.2:n.2880+6G>T | |
| ENST00000506231.5:n.2861+6G>T | ||
| ENST00000508709.1:n.414+6G>T | ||
| ENST00000510191.5:c.2718+6G>T | ENSP00000426005.1:n.2718+6G>T | |
| NM_020117.9:c.2880+6G>T | NP_064502.9:n.2880+6G>T | |
| XM_011537655.1:c.2742+6G>T | XP_011535957.1:n.2742+6G>T | |
| XM_011537656.1:c.2718+6G>T | XP_011535958.1:n.2718+6G>T | |
| XM_011537657.1:c.2667+6G>T | XP_011535959.1:n.2667+6G>T | |
| NM_001317964.1:c.2742+6G>T | NP_001304893.1:n.2742+6G>T | |
| NM_001317965.1:c.2718+6G>T | NP_001304894.1:n.2718+6G>T | |
| NM_016460.3:c.2799+6G>T | NP_057544.2:n.2799+6G>T | |
| NM_020117.10:c.2880+6G>T | NP_064502.9:n.2880+6G>T | |
| XM_011537656.3:c.2718+6G>T | XP_011535958.1:n.2718+6G>T | |
| NM_020117.11:c.2880+6G>T MANE Select | NP_064502.9:n.2880+6G>T | |
| NM_001317964.2:c.2742+6G>T | NP_001304893.1:n.2742+6G>T | |
| NM_001317965.2:c.2718+6G>T | NP_001304894.1:n.2718+6G>T | |
| NM_016460.4:c.2799+6G>T | NP_057544.2:n.2799+6G>T |