Linked Data
ClinVar Variation Id:
280510
dbSNP Id:
rs149644940
ExAC:
15:101113900 A / C
gnomAD v2:
15-101113900-A-C
gnomAD v3:
15-100573695-A-C
gnomAD v4:
15-100573695-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100573695A>C , CM000677.2:g.100573695A>C | GRCh38 |
| NC_000015.9:g.101113900A>C , CM000677.1:g.101113900A>C | GRCh37 |
| NC_000015.8:g.98931423A>C | NCBI36 |
| NG_034076.1:g.33546T>G | |
| NG_034076.2:g.34338T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314742.13:c.1178T>G MANE Select | ENSP00000318423.8:p.Leu393Ter | |
| ENST00000314742.12:c.1178T>G | ENSP00000318423.8:p.Leu393Ter | |
| ENST00000559149.5:n.1335T>G | ||
| ENST00000560133.5:c.821T>G | ENSP00000454929.1:p.Leu274Ter | |
| ENST00000560783.1:c.147T>G | ||
| ENST00000561308.5:c.1178T>G | ENSP00000454200.1:p.Leu393Ter | |
| NM_001040616.2:c.1178T>G | NP_001035706.1:p.Leu393Ter | |
| XM_005254941.1:c.1178T>G | XP_005254998.1:p.Leu393Ter | |
| XM_005254943.1:c.1178T>G | XP_005255000.1:p.Leu393Ter | |
| XR_243210.2:n.1281T>G | ||
| XR_429464.2:n.1281T>G | ||
| XR_931862.1:n.1281T>G | ||
| XR_931863.1:n.1281T>G | ||
| XR_931864.1:n.1281T>G | ||
| NM_001352507.1:c.431T>G | NP_001339436.1:p.Leu144Ter | |
| NM_001352508.1:c.1133T>G | NP_001339437.1:p.Leu378Ter | |
| NR_148017.1:n.1401T>G | ||
| NR_148018.1:n.1401T>G | ||
| NR_148019.1:n.1405T>G | ||
| XM_005254941.2:c.1178T>G | XP_005254998.1:p.Leu393Ter | |
| XM_005254943.2:c.1178T>G | XP_005255000.1:p.Leu393Ter | |
| XM_017022399.2:c.431T>G | XP_016877888.1:p.Leu144Ter | |
| XM_017022400.2:c.431T>G | XP_016877889.1:p.Leu144Ter | |
| XM_024449979.1:c.1178T>G | XP_024305747.1:p.Leu393Ter | |
| XM_024449980.1:c.1178T>G | XP_024305748.1:p.Leu393Ter | |
| XR_001751346.2:n.2193T>G | ||
| XR_001751347.2:n.2193T>G | ||
| XR_001751348.2:n.2193T>G | ||
| XR_002957655.1:n.2193T>G | ||
| XR_931862.3:n.2193T>G | ||
| NM_001040616.3:c.1178T>G MANE Select | NP_001035706.2:p.Leu393Ter | |
| NM_001352507.2:c.431T>G | NP_001339436.1:p.Leu144Ter | |
| NM_001352508.2:c.1133T>G | NP_001339437.1:p.Leu378Ter | |
| NR_148017.2:n.1345T>G | ||
| NR_148018.2:n.1345T>G | ||
| NR_148019.2:n.1349T>G |