Linked Data
ClinVar Variation Id:
317687
ClinVar RCV Id:
RCV000275429
dbSNP Id:
rs368964652
ExAC:
16:10998681 G / A
gnomAD v2:
16-10998681-G-A
gnomAD v3:
16-10904824-G-A
gnomAD v4:
16-10904824-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10904824G>A , CM000678.2:g.10904824G>A | GRCh38 |
| NC_000016.9:g.10998681G>A , CM000678.1:g.10998681G>A | GRCh37 |
| NC_000016.8:g.10906182G>A | NCBI36 |
| NG_009628.1:g.32627G>A , LRG_49:g.32627G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695879.1:n.1031+12G>A | ||
| ENST00000324288.14:c.1006+12G>A MANE Select | ENSP00000316328.8:n.1006+12G>A | |
| ENST00000324288.12:c.1006+12G>A | ENSP00000316328.8:n.1006+12G>A | |
| ENST00000381835.9:c.859+12G>A | ENSP00000371257.5:n.859+12G>A | |
| ENST00000537380.1:n.1006+12G>A | ||
| ENST00000570546.5:n.1127+12G>A | ||
| ENST00000573309.5:n.977+12G>A | ||
| ENST00000611587.4:c.862+12G>A | ENSP00000483487.1:n.862+12G>A | |
| ENST00000618207.4:c.1006+12G>A | ENSP00000484761.1:n.1006+12G>A | |
| ENST00000618327.4:c.1009+12G>A | ENSP00000485010.1:n.1009+12G>A | |
| NM_000246.3:c.1006+12G>A , LRG_49t1:c.1006+12G>A | NP_000237.2:n.1006+12G>A | |
| NM_001286402.1:c.1009+12G>A | NP_001273331.1:n.1009+12G>A | |
| NM_001286403.1:c.859+12G>A | NP_001273332.1:n.859+12G>A | |
| NR_104444.1:n.1139+12G>A | ||
| XM_006720880.2:c.1303+12G>A | XP_006720943.2:n.1303+12G>A | |
| XM_011522484.1:c.1303+12G>A | XP_011520786.1:n.1303+12G>A | |
| XM_011522485.1:c.1303+12G>A | XP_011520787.1:n.1303+12G>A | |
| XM_011522486.1:c.1303+12G>A | XP_011520788.1:n.1303+12G>A | |
| XM_011522487.1:c.1057+12G>A | XP_011520789.1:n.1057+12G>A | |
| XM_011522488.1:c.1054+12G>A | XP_011520790.1:n.1054+12G>A | |
| XM_011522489.1:c.1054+12G>A | XP_011520791.1:n.1054+12G>A | |
| XM_011522490.1:c.1051+12G>A | XP_011520792.1:n.1051+12G>A | |
| XM_011522491.1:c.1303+12G>A | XP_011520793.1:n.1303+12G>A | |
| XM_011522492.1:c.1009+12G>A | XP_011520794.1:n.1009+12G>A | |
| XM_011522493.1:c.1006+12G>A | XP_011520795.1:n.1006+12G>A | |
| XM_011522494.1:c.937+12G>A | XP_011520796.1:n.937+12G>A | |
| XM_011522495.1:c.862+12G>A | XP_011520797.1:n.862+12G>A | |
| XM_011522496.1:c.859+12G>A | XP_011520798.1:n.859+12G>A | |
| XR_932841.1:n.1318+12G>A | ||
| XR_932842.1:n.1318+12G>A | ||
| XR_932843.1:n.1318+12G>A | ||
| XR_932846.1:n.1318+12G>A | ||
| XR_932847.1:n.1318+12G>A | ||
| XR_932848.1:n.1009+12G>A | ||
| XM_006720880.3:c.1303+12G>A | XP_006720943.2:n.1303+12G>A | |
| XM_011522484.3:c.1303+12G>A | XP_011520786.1:n.1303+12G>A | |
| XM_011522485.2:c.1303+12G>A | XP_011520787.1:n.1303+12G>A | |
| XM_011522486.2:c.1303+12G>A | XP_011520788.1:n.1303+12G>A | |
| XM_011522487.2:c.1057+12G>A | XP_011520789.1:n.1057+12G>A | |
| XM_011522488.2:c.1054+12G>A | XP_011520790.1:n.1054+12G>A | |
| XM_011522489.2:c.1054+12G>A | XP_011520791.1:n.1054+12G>A | |
| XM_011522490.2:c.1051+12G>A | XP_011520792.1:n.1051+12G>A | |
| XM_011522491.2:c.1303+12G>A | XP_011520793.1:n.1303+12G>A | |
| XM_011522492.2:c.1009+12G>A | XP_011520794.1:n.1009+12G>A | |
| XM_011522493.2:c.1006+12G>A | XP_011520795.1:n.1006+12G>A | |
| XM_011522494.2:c.937+12G>A | XP_011520796.1:n.937+12G>A | |
| XM_011522495.2:c.862+12G>A | XP_011520797.1:n.862+12G>A | |
| XM_011522496.2:c.859+12G>A | XP_011520798.1:n.859+12G>A | |
| XM_024450280.1:c.1249+12G>A | XP_024306048.1:n.1249+12G>A | |
| XM_024450281.1:c.1102+12G>A | XP_024306049.1:n.1102+12G>A | |
| XR_001751904.1:n.1322+12G>A | ||
| XR_932841.3:n.1320+12G>A | ||
| XR_932842.2:n.1320+12G>A | ||
| XR_932846.3:n.1322+12G>A | ||
| XR_932847.3:n.1322+12G>A | ||
| NM_001286403.2:c.859+12G>A | NP_001273332.1:n.859+12G>A | |
| NR_104444.2:n.1135+12G>A | ||
| NM_000246.4:c.1006+12G>A MANE Select | NP_000237.2:n.1006+12G>A | |
| NM_001379330.1:c.862+12G>A | NP_001366259.1:n.862+12G>A | |
| NM_001379331.1:c.859+12G>A | NP_001366260.1:n.859+12G>A | |
| NM_001379332.1:c.1009+12G>A | NP_001366261.1:n.1009+12G>A | |
| NM_001379333.1:c.1006+12G>A | NP_001366262.1:n.1006+12G>A | |
| NM_001379334.1:c.937+12G>A | NP_001366263.1:n.937+12G>A |