Linked Data
ClinVar Variation Id:
790128
ClinVar RCV Id:
RCV000972862
dbSNP Id:
rs147289806
ExAC:
12:117423205 C / T
gnomAD v2:
12-117423205-C-T
gnomAD v3:
12-116985400-C-T
gnomAD v4:
12-116985400-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116985400C>T , CM000674.2:g.116985400C>T | GRCh38 |
| NC_000012.11:g.117423205C>T , CM000674.1:g.117423205C>T | GRCh37 |
| NC_000012.10:g.115907588C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309909.10:c.718C>T | ENSP00000310686.6:p.Leu240= | |
| ENST00000652555.1:c.1030C>T MANE Select | ENSP00000498999.1:p.Leu344= | |
| ENST00000309909.9:c.1030C>T | ENSP00000310686.5:p.Leu344= | |
| ENST00000455858.2:c.832C>T | ENSP00000389144.2:p.Leu278= | |
| ENST00000551773.1:n.507C>T | ||
| NM_012174.1:c.832C>T | NP_036306.1:p.Leu278= | |
| NM_153348.2:c.1030C>T | NP_699179.2:p.Leu344= | |
| NR_103809.1:n.1685-24G>A | ||
| XM_005253866.2:c.1030C>T | XP_005253923.1:p.Leu344= | |
| XM_005253867.2:c.487C>T | XP_005253924.1:p.Leu163= | |
| XM_005253868.2:c.487C>T | XP_005253925.1:p.Leu163= | |
| XM_011538172.1:c.787C>T | XP_011536474.1:p.Leu263= | |
| XR_944517.1:n.1117C>T | ||
| XR_944518.1:n.1117C>T | ||
| XM_005253868.3:c.487C>T | XP_005253925.1:p.Leu163= | |
| XM_017019175.2:c.787C>T | XP_016874664.1:p.Leu263= | |
| XM_017019176.1:c.1033C>T | XP_016874665.1:p.Leu345= | |
| XM_017019177.1:c.1033C>T | XP_016874666.1:p.Leu345= | |
| XM_017019178.2:c.220C>T | XP_016874667.1:p.Leu74= | |
| XM_024448937.1:c.826C>T | XP_024304705.1:p.Leu276= | |
| XR_001748653.1:n.1122C>T | ||
| XR_001748654.1:n.1121C>T | ||
| NM_153348.3:c.1030C>T MANE Select | NP_699179.2:p.Leu344= | |
| NM_012174.2:c.832C>T | NP_036306.1:p.Leu278= |