COSMIC:
COSN6687099 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63041824 (EAS)
Genomes Max Group AF
0.63041824 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44428840G>T , CM000682.2:g.44428840G>T | GRCh38 |
| NC_000020.10:g.43057480G>T , CM000682.1:g.43057480G>T | GRCh37 |
| NC_000020.9:g.42490894G>T | NCBI36 |
| NG_009818.1:g.78040G>T , LRG_483:g.78040G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.1216+353G>T MANE Select | ENSP00000315180.4:n.1216+353G>T | |
| ENST00000316099.10:c.1282+353G>T | ENSP00000312987.3:n.1282+353G>T | |
| ENST00000316099.9:c.1282+353G>T | ENSP00000312987.3:n.1282+353G>T | |
| ENST00000316099.8:c.1282+353G>T | ENSP00000312987.3:n.1282+353G>T | |
| ENST00000316673.8:c.1216+353G>T | ENSP00000315180.4:n.1216+353G>T | |
| ENST00000372920.1:c.*1049+353G>T | ENSP00000362011.1:n.*1049+353G>T | |
| ENST00000415691.2:c.1252+383G>T | ENSP00000412111.1:n.1252+383G>T | |
| ENST00000457232.5:c.1186+383G>T | ENSP00000396216.1:n.1186+383G>T | |
| ENST00000619550.4:c.1207+353G>T | ENSP00000481331.1:n.1207+353G>T | |
| NM_000457.4:c.1282+353G>T , LRG_483t2:c.1282+353G>T | NP_000448.3:n.1282+353G>T | |
| NM_001030003.2:c.1186+383G>T | NP_001025174.1:n.1186+383G>T | |
| NM_001258355.1:c.1261+353G>T | NP_001245284.1:n.1261+353G>T | |
| NM_001287182.1:c.1177+383G>T | NP_001274111.1:n.1177+383G>T | |
| NM_001287183.1:c.1207+353G>T , LRG_483t3:c.1207+353G>T | NP_001274112.1:n.1207+353G>T | |
| NM_175914.4:c.1216+353G>T , LRG_483t1:c.1216+353G>T | NP_787110.2:n.1216+353G>T | |
| NM_178849.2:c.1252+383G>T | NP_849180.1:n.1252+383G>T | |
| XM_005260407.2:c.1399+353G>T | XP_005260464.1:n.1399+353G>T | |
| XM_011528797.1:c.1300+383G>T | XP_011527099.1:n.1300+383G>T | |
| XM_011528798.1:c.1330+353G>T | XP_011527100.1:n.1330+353G>T | |
| XM_005260407.4:c.1399+353G>T | XP_005260464.1:n.1399+353G>T | |
| NM_001030003.3:c.1186+383G>T | NP_001025174.1:n.1186+383G>T | |
| NM_001258355.2:c.1261+353G>T | NP_001245284.1:n.1261+353G>T | |
| NM_001287182.2:c.1177+383G>T | NP_001274111.1:n.1177+383G>T | |
| NM_178849.3:c.1252+383G>T | NP_849180.1:n.1252+383G>T | |
| NM_000457.5:c.1282+353G>T | NP_000448.3:n.1282+353G>T | |
| NM_000457.6:c.1282+353G>T | NP_000448.3:n.1282+353G>T | |
| NM_001287183.2:c.1207+353G>T | NP_001274112.1:n.1207+353G>T | |
| NM_175914.5:c.1216+353G>T MANE Select | NP_787110.2:n.1216+353G>T |