Linked Data
ClinVar Variation Id:
2990950
ClinVar RCV Id:
RCV003847629
dbSNP Id:
rs780637390
gnomAD v2:
4-187205364-C-T
gnomAD v4:
4-186284210-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284210C>T , CM000666.2:g.186284210C>T | GRCh38 |
| NC_000004.11:g.187205364C>T , CM000666.1:g.187205364C>T | GRCh37 |
| NC_000004.10:g.187442358C>T | NCBI36 |
| NG_008051.1:g.23247C>T , LRG_583:g.23247C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1254C>T MANE Select | ENSP00000384957.2:p.Gly418= | |
| ENST00000264692.8:c.1092C>T | ENSP00000264692.5:p.Gly364= | |
| ENST00000403665.6:c.1254C>T | ENSP00000384957.2:p.Gly418= | |
| NM_000128.3:c.1254C>T , LRG_583t1:c.1254C>T | NP_000119.1:p.Gly418= | |
| XM_005262821.2:c.1257C>T | XP_005262878.1:p.Gly419= | |
| XM_005262822.2:c.1257C>T | XP_005262879.1:p.Gly419= | |
| XM_005262823.2:c.987C>T | XP_005262880.1:p.Gly329= | |
| XM_005262824.1:c.1257C>T | XP_005262881.1:p.Gly419= | |
| XM_006714137.1:c.1209C>T | XP_006714200.1:p.Gly403= | |
| XR_938706.1:n.1662C>T | ||
| XR_938707.1:n.1662C>T | ||
| XM_005262821.4:c.1257C>T | XP_005262878.1:p.Gly419= | |
| XM_005262822.4:c.1257C>T | XP_005262879.1:p.Gly419= | |
| XM_005262823.4:c.987C>T | XP_005262880.1:p.Gly329= | |
| XM_006714137.3:c.1209C>T | XP_006714200.1:p.Gly403= | |
| XR_001741172.2:n.1728C>T | ||
| NM_000128.4:c.1254C>T MANE Select | NP_000119.1:p.Gly418= |