Linked Data
ClinVar Variation Id:
9117
dbSNP Id:
rs137852669
gnomAD v2:
11-68679067-T-G
gnomAD v3:
11-68911599-T-G
gnomAD v4:
11-68911599-T-G
PubMed:
PMID:11528396
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68911599T>G , CM000673.2:g.68911599T>G | GRCh38 |
| NC_000011.9:g.68679067T>G , CM000673.1:g.68679067T>G | GRCh37 |
| NC_000011.8:g.68435643T>G | NCBI36 |
| NG_007976.1:g.12749T>G , LRG_250:g.12749T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.707T>G MANE Select | ENSP00000255078.4:p.Leu236Ter | |
| ENST00000539224.2:c.670T>G | ||
| ENST00000674583.1:c.670T>G | ||
| ENST00000674955.1:c.707T>G | ENSP00000502463.1:p.Leu236Ter | |
| ENST00000675118.1:c.54T>G | ||
| ENST00000675142.1:n.670T>G | ||
| ENST00000675615.1:c.707T>G | ENSP00000502413.1:p.Leu236Ter | |
| ENST00000675674.1:n.670T>G | ||
| ENST00000675683.1:c.98+2968T>G | ||
| ENST00000675873.1:c.670T>G | ||
| ENST00000676173.1:n.751T>G | ||
| ENST00000676228.1:c.*30T>G | ENSP00000502375.1:n.*30T>G | |
| ENST00000255078.7:c.707T>G | ENSP00000255078.3:p.Leu236Ter | |
| ENST00000539224.1:c.*30T>G | ENSP00000440465.1:n.*30T>G | |
| NM_002180.2:c.707T>G , LRG_250t1:c.707T>G | NP_002171.2:p.Leu236Ter | |
| XM_005273974.2:c.-305T>G | XP_005274031.1:n.-305T>G | |
| XM_005273976.1:c.707T>G | XP_005274033.1:p.Leu236Ter | |
| XR_247198.1:n.809T>G | ||
| XR_949903.1:n.809T>G | ||
| XM_005273976.2:c.707T>G | XP_005274033.1:p.Leu236Ter | |
| XM_017017669.2:c.-305T>G | XP_016873158.1:n.-305T>G | |
| XM_017017671.2:c.707T>G | XP_016873160.1:p.Leu236Ter | |
| XR_949903.3:n.805T>G | ||
| NM_002180.3:c.707T>G MANE Select | NP_002171.2:p.Leu236Ter |