Linked Data
ClinVar Variation Id:
4747
dbSNP Id:
rs121908330
gnomAD v2:
17-76131047-G-T
gnomAD v4:
17-78134966-G-T
PubMed:
PMID:12426567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78134966G>T , CM000679.2:g.78134966G>T | GRCh38 |
| NC_000017.10:g.76131047G>T , CM000679.1:g.76131047G>T | GRCh37 |
| NC_000017.9:g.73642642G>T | NCBI36 |
| NG_007879.1:g.2442C>A , LRG_118:g.2442C>A | |
| NG_007881.1:g.9189G>T , LRG_119:g.9189G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590184.2:n.787G>T | ||
| ENST00000698566.1:n.746G>T | ||
| ENST00000698567.1:n.746G>T | ||
| ENST00000698568.1:n.667G>T | ||
| ENST00000698569.1:n.541G>T | ||
| ENST00000698570.1:n.388G>T | ||
| ENST00000698571.1:n.146G>T | ||
| ENST00000698572.1:n.169G>T | ||
| ENST00000318430.10:c.1084G>T MANE Select | ENSP00000325561.4:p.Glu362Ter | |
| ENST00000318430.9:c.1084G>T | ENSP00000325561.4:p.Glu362Ter | |
| ENST00000589691.1:c.415G>T | ENSP00000467482.1:p.Glu139Ter | |
| ENST00000590184.1:n.18G>T | ||
| ENST00000591983.5:n.99G>T | ||
| ENST00000592399.5:n.99G>T | ||
| NM_152468.4:c.1084G>T , LRG_119t1:c.1084G>T | NP_689681.2:p.Glu362Ter | |
| XM_011524402.1:c.1096G>T | XP_011522704.1:p.Glu366Ter | |
| XM_011524403.1:c.1084G>T | XP_011522705.1:p.Glu362Ter | |
| XM_011524404.1:c.1096G>T | XP_011522706.1:p.Glu366Ter | |
| XM_011524405.1:c.982G>T | XP_011522707.1:p.Glu328Ter | |
| XM_011524406.1:c.1103G>T | XP_011522708.1:p.Gly368Val | |
| XM_011524407.1:c.427G>T | XP_011522709.1:p.Glu143Ter | |
| XM_011524408.1:c.427G>T | XP_011522710.1:p.Glu143Ter | |
| XM_011524409.1:c.1103G>T | XP_011522711.1:p.Gly368Val | |
| XM_011524410.1:c.1103G>T | XP_011522712.1:p.Gly368Val | |
| XM_011524411.1:c.1096G>T | XP_011522713.1:p.Glu366Ter | |
| XR_934395.1:n.3405G>T | ||
| XR_934397.1:n.3405G>T | ||
| XR_934398.1:n.3412G>T | ||
| XR_934400.1:n.3405G>T | ||
| XM_017024242.2:c.235G>T | XP_016879731.1:p.Glu79Ter | |
| XM_017024243.1:c.415G>T | XP_016879732.1:p.Glu139Ter | |
| XM_017024244.1:c.1091G>T | XP_016879733.1:p.Gly364Val | |
| XM_024450617.1:c.1096G>T | XP_024306385.1:p.Glu366Ter | |
| XM_024450618.1:c.1096G>T | XP_024306386.1:p.Glu366Ter | |
| XM_024450619.1:c.1084G>T | XP_024306387.1:p.Glu362Ter | |
| XM_024450620.1:c.1096G>T | XP_024306388.1:p.Glu366Ter | |
| XM_024450621.1:c.1096G>T | XP_024306389.1:p.Glu366Ter | |
| XM_024450622.1:c.1096G>T | XP_024306390.1:p.Glu366Ter | |
| XM_024450623.1:c.1103G>T | XP_024306391.1:p.Gly368Val | |
| XM_024450624.1:c.1096G>T | XP_024306392.1:p.Glu366Ter | |
| XM_024450625.1:c.1103G>T | XP_024306393.1:p.Gly368Val | |
| XM_024450626.1:c.1103G>T | XP_024306394.1:p.Gly368Val | |
| XM_024450627.1:c.1096G>T | XP_024306395.1:p.Glu366Ter | |
| XR_002957973.1:n.1177G>T | ||
| XR_002957974.1:n.1177G>T | ||
| XR_002957975.1:n.1165G>T | ||
| XR_002957976.1:n.1184G>T | ||
| XR_002957977.1:n.1172G>T | ||
| XR_002957978.1:n.1184G>T | ||
| XR_002957979.1:n.1177G>T | ||
| NM_152468.5:c.1084G>T MANE Select | NP_689681.2:p.Glu362Ter |