Linked Data
ClinVar Variation Id:
305830
dbSNP Id:
rs199586231
ExAC:
11:68673553 A / G
gnomAD v2:
11-68673553-A-G
gnomAD v3:
11-68906085-A-G
gnomAD v4:
11-68906085-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68906085A>G , CM000673.2:g.68906085A>G | GRCh38 |
| NC_000011.9:g.68673553A>G , CM000673.1:g.68673553A>G | GRCh37 |
| NC_000011.8:g.68430129A>G | NCBI36 |
| NG_007976.1:g.7235A>G , LRG_250:g.7235A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.103A>G MANE Select | ENSP00000255078.4:p.Ile35Val | |
| ENST00000539224.2:c.66A>G | ||
| ENST00000674583.1:c.66A>G | ||
| ENST00000674597.1:c.17A>G | ||
| ENST00000674729.1:n.46A>G | ||
| ENST00000674955.1:c.103A>G | ENSP00000502463.1:p.Ile35Val | |
| ENST00000675142.1:n.66A>G | ||
| ENST00000675469.1:c.17A>G | ||
| ENST00000675615.1:c.103A>G | ENSP00000502413.1:p.Ile35Val | |
| ENST00000675674.1:n.66A>G | ||
| ENST00000675800.1:n.48A>G | ||
| ENST00000675873.1:c.66A>G | ||
| ENST00000676173.1:n.143A>G | ||
| ENST00000676228.1:c.103A>G | ENSP00000502375.1:p.Ile35Val | |
| ENST00000255078.7:c.103A>G | ENSP00000255078.3:p.Ile35Val | |
| ENST00000539224.1:c.103A>G | ENSP00000440465.1:p.Ile35Val | |
| ENST00000544541.1:c.86+2047A>G | ENSP00000443343.1:n.86+2047A>G | |
| ENST00000545146.1:c.103A>G | ENSP00000456366.1:p.Ile35Val | |
| NM_002180.2:c.103A>G , LRG_250t1:c.103A>G | NP_002171.2:p.Ile35Val | |
| XM_005273974.2:c.-913A>G | XP_005274031.1:n.-913A>G | |
| XM_005273976.1:c.103A>G | XP_005274033.1:p.Ile35Val | |
| XR_247198.1:n.205A>G | ||
| XR_949903.1:n.205A>G | ||
| XM_005273976.2:c.103A>G | XP_005274033.1:p.Ile35Val | |
| XM_017017669.2:c.-811A>G | XP_016873158.1:n.-811A>G | |
| XM_017017671.2:c.103A>G | XP_016873160.1:p.Ile35Val | |
| XR_949903.3:n.201A>G | ||
| NM_002180.3:c.103A>G MANE Select | NP_002171.2:p.Ile35Val |