Linked Data
ClinVar Variation Id:
587785
dbSNP Id:
rs11247226
ExAC:
15:101120963 T / C
gnomAD v2:
15-101120963-T-C
gnomAD v3:
15-100580758-T-C
gnomAD v4:
15-100580758-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100580758T>C , CM000677.2:g.100580758T>C | GRCh38 |
| NC_000015.9:g.101120963T>C , CM000677.1:g.101120963T>C | GRCh37 |
| NC_000015.8:g.98938486T>C | NCBI36 |
| NG_034076.1:g.26483A>G | |
| NG_034076.2:g.27275A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314742.13:c.85A>G MANE Select | ENSP00000318423.8:p.Ile29Val | |
| ENST00000314742.12:c.85A>G | ENSP00000318423.8:p.Ile29Val | |
| ENST00000559149.5:n.242A>G | ||
| ENST00000559577.5:c.85A>G | ENSP00000453642.1:p.Ile29Val | |
| ENST00000559736.5:c.85A>G | ENSP00000452941.1:p.Ile29Val | |
| ENST00000560133.5:c.42+43A>G | ENSP00000454929.1:n.42+43A>G | |
| ENST00000560272.1:c.85A>G | ENSP00000453495.1:p.Ile29Val | |
| ENST00000560934.1:c.85A>G | ENSP00000453692.1:p.Ile29Val | |
| ENST00000560941.5:c.-137-22A>G | ENSP00000454985.1:n.-137-22A>G | |
| ENST00000561073.1:n.218A>G | ||
| ENST00000561308.5:c.85A>G | ENSP00000454200.1:p.Ile29Val | |
| NM_001040616.2:c.85A>G | NP_001035706.1:p.Ile29Val | |
| XM_005254941.1:c.85A>G | XP_005254998.1:p.Ile29Val | |
| XM_005254943.1:c.85A>G | XP_005255000.1:p.Ile29Val | |
| XR_243210.2:n.188A>G | ||
| XR_429464.2:n.188A>G | ||
| XR_931862.1:n.188A>G | ||
| XR_931863.1:n.188A>G | ||
| XR_931864.1:n.188A>G | ||
| NM_001352507.1:c.-825A>G | NP_001339436.1:n.-825A>G | |
| NM_001352508.1:c.85A>G | NP_001339437.1:p.Ile29Val | |
| NR_148017.1:n.308A>G | ||
| NR_148018.1:n.308A>G | ||
| NR_148019.1:n.312A>G | ||
| XM_005254941.2:c.85A>G | XP_005254998.1:p.Ile29Val | |
| XM_005254943.2:c.85A>G | XP_005255000.1:p.Ile29Val | |
| XM_017022400.2:c.-825A>G | XP_016877889.1:n.-825A>G | |
| XM_024449979.1:c.85A>G | XP_024305747.1:p.Ile29Val | |
| XM_024449980.1:c.85A>G | XP_024305748.1:p.Ile29Val | |
| XR_001751346.2:n.1100A>G | ||
| XR_001751347.2:n.1100A>G | ||
| XR_001751348.2:n.1100A>G | ||
| XR_002957655.1:n.1100A>G | ||
| XR_931862.3:n.1100A>G | ||
| NM_001040616.3:c.85A>G MANE Select | NP_001035706.2:p.Ile29Val | |
| NM_001352507.2:c.-825A>G | NP_001339436.1:n.-825A>G | |
| NM_001352508.2:c.85A>G | NP_001339437.1:p.Ile29Val | |
| NR_148017.2:n.252A>G | ||
| NR_148018.2:n.252A>G | ||
| NR_148019.2:n.256A>G |