Linked Data
ClinVar Variation Id:
5735
ClinVar RCV Id:
RCV000006089
dbSNP Id:
rs137853136
PubMed:
PMID:11389483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197442284G>T , CM000663.2:g.197442284G>T | GRCh38 |
| NC_000001.10:g.197411414G>T , CM000663.1:g.197411414G>T | GRCh37 |
| NC_000001.9:g.195678037G>T | NCBI36 |
| NG_008483.1:g.179007G>T | |
| NG_008483.2:g.245823G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.3997G>T MANE Select | ENSP00000356370.3:p.Glu1333Ter | |
| ENST00000638467.1:c.3997G>T | ENSP00000491102.1:p.Glu1333Ter | |
| ENST00000681519.1:c.2878G>T | ENSP00000505267.1:p.Glu960Ter | |
| ENST00000367397.1:c.*3605G>T | ENSP00000356367.1:n.*3605G>T | |
| ENST00000367399.6:c.3661G>T | ENSP00000356369.2:p.Glu1221Ter | |
| ENST00000367400.7:c.3997G>T | ENSP00000356370.3:p.Glu1333Ter | |
| ENST00000448952.1:c.115G>T | ENSP00000395407.1:p.Glu39Ter | |
| ENST00000484075.5:c.3997G>T | ENSP00000433932.1:p.Glu1333Ter | |
| ENST00000535699.5:c.3925G>T | ENSP00000438786.1:p.Glu1309Ter | |
| ENST00000538660.5:c.2389G>T | ENSP00000438091.1:p.Glu797Ter | |
| NM_001193640.1:c.3661G>T | NP_001180569.1:p.Glu1221Ter | |
| NM_001257965.1:c.3925G>T | NP_001244894.1:p.Glu1309Ter | |
| NM_001257966.1:c.2389G>T | NP_001244895.1:p.Glu797Ter | |
| NM_201253.2:c.3997G>T | NP_957705.1:p.Glu1333Ter | |
| NR_047563.1:n.3998G>T | ||
| NR_047564.1:n.4206G>T | ||
| XM_011509365.1:c.3997G>T | XP_011507667.1:p.Glu1333Ter | |
| XM_011509366.1:c.3997G>T | XP_011507668.1:p.Glu1333Ter | |
| XM_011509367.1:c.3878+3609G>T | XP_011507669.1:n.3878+3609G>T | |
| XM_011509368.1:c.3415G>T | XP_011507670.1:p.Glu1139Ter | |
| XM_011509369.1:c.2440G>T | XP_011507671.1:p.Glu814Ter | |
| XM_011509365.2:c.3997G>T | XP_011507667.1:p.Glu1333Ter | |
| XM_011509369.2:c.2440G>T | XP_011507671.1:p.Glu814Ter | |
| XM_017000851.1:c.3154G>T | XP_016856340.1:p.Glu1052Ter | |
| XM_017000852.1:c.4132G>T | XP_016856341.1:p.Glu1378Ter | |
| NM_201253.3:c.3997G>T MANE Select | NP_957705.1:p.Glu1333Ter | |
| NM_001193640.2:c.3661G>T | NP_001180569.1:p.Glu1221Ter | |
| NM_001257965.2:c.3925G>T | NP_001244894.1:p.Glu1309Ter | |
| NR_047563.2:n.3950G>T | ||
| NR_047564.2:n.4158G>T | ||
| NM_001257966.2:c.2389G>T | NP_001244895.1:p.Glu797Ter |