Linked Data
dbSNP Id:
rs952247760
gnomAD v2:
16-1392930-G-A
gnomAD v3:
16-1342929-G-A
gnomAD v4:
16-1342929-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1342929G>A , CM000678.2:g.1342929G>A | GRCh38 |
| NC_000016.9:g.1392930G>A , CM000678.1:g.1392930G>A | GRCh37 |
| NC_000016.8:g.1332931G>A | NCBI36 |
| NG_033974.1:g.14325G>A | |
| NG_033974.2:g.14325G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561793.2:c.447G>A | ||
| ENST00000564213.2:c.1178G>A | ENSP00000518583.1:p.Trp393Ter | |
| ENST00000565665.6:n.1551G>A | ||
| ENST00000567203.2:n.1293G>A | ||
| ENST00000711102.1:c.1178G>A | ENSP00000518580.1:p.Trp393Ter | |
| ENST00000711103.1:c.1178G>A | ENSP00000518581.1:p.Trp393Ter | |
| ENST00000711104.1:c.1229G>A | ENSP00000518582.1:p.Trp410Ter | |
| ENST00000711105.1:c.1178G>A | ENSP00000518584.1:p.Trp393Ter | |
| ENST00000711111.1:n.1294G>A | ||
| ENST00000426824.8:c.1178G>A MANE Select | ENSP00000407242.4:p.Trp393Ter | |
| ENST00000324385.9:c.1283G>A | ENSP00000324510.5:p.Trp428Ter | |
| ENST00000397488.6:c.1229G>A | ENSP00000380625.2:p.Trp410Ter | |
| ENST00000421665.6:c.1070G>A | ENSP00000409533.2:p.Trp357Ter | |
| ENST00000426824.7:c.1178G>A | ENSP00000407242.3:p.Trp393Ter | |
| ENST00000562208.5:c.1109G>A | ENSP00000458134.1:p.Trp370Ter | |
| ENST00000568887.5:c.1094G>A | ENSP00000457644.1:p.Trp365Ter | |
| ENST00000628027.2:c.1229G>A | ENSP00000487275.1:p.Trp410Ter | |
| NM_001199096.1:c.1070G>A | NP_001186025.1:p.Trp357Ter | |
| NM_001199097.1:c.1178G>A | NP_001186026.1:p.Trp393Ter | |
| NM_001199098.1:c.1109G>A | NP_001186027.1:p.Trp370Ter | |
| NM_001199099.1:c.1094G>A | NP_001186028.1:p.Trp365Ter | |
| NM_001286464.1:c.1229G>A | NP_001273393.1:p.Trp410Ter | |
| NM_003933.4:c.1283G>A | NP_003924.2:p.Trp428Ter | |
| XM_011522728.1:c.1334G>A | XP_011521030.1:p.Trp445Ter | |
| XM_011522729.1:c.1334G>A | XP_011521031.1:p.Trp445Ter | |
| XM_011522730.1:c.1334G>A | XP_011521032.1:p.Trp445Ter | |
| XM_011522730.2:c.1334G>A | XP_011521032.1:p.Trp445Ter | |
| NM_001199097.2:c.1178G>A MANE Select | NP_001186026.1:p.Trp393Ter | |
| NM_001199098.2:c.1109G>A | NP_001186027.1:p.Trp370Ter | |
| NM_001199099.2:c.1094G>A | NP_001186028.1:p.Trp365Ter | |
| NM_001286464.2:c.1229G>A | NP_001273393.2:p.Trp410Ter | |
| NM_001199096.2:c.1070G>A | NP_001186025.1:p.Trp357Ter | |
| NM_003933.5:c.1283G>A | NP_003924.2:p.Trp428Ter |