Linked Data
ClinVar Variation Id:
305745
dbSNP Id:
rs148461900
ExAC:
11:67377010 G / T
gnomAD v2:
11-67377010-G-T
gnomAD v3:
11-67609539-G-T
gnomAD v4:
11-67609539-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67609539G>T , CM000673.2:g.67609539G>T | GRCh38 |
| NC_000011.9:g.67377010G>T , CM000673.1:g.67377010G>T | GRCh37 |
| NC_000011.8:g.67133586G>T | NCBI36 |
| NG_013353.1:g.7688G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.414G>T MANE Select | ENSP00000322450.6:p.Leu138= | |
| ENST00000647561.1:c.414G>T | ENSP00000497587.1:p.Leu138= | |
| ENST00000322776.10:c.414G>T | ENSP00000322450.6:p.Leu138= | |
| ENST00000415352.6:c.393G>T | ENSP00000395368.2:p.Leu131= | |
| ENST00000524838.5:n.471G>T | ||
| ENST00000525086.5:n.487G>T | ||
| ENST00000526169.1:n.156G>T | ||
| ENST00000526770.5:n.273G>T | ||
| ENST00000528314.1:c.111G>T | ENSP00000434581.1:p.Leu37= | |
| ENST00000528377.1:n.585G>T | ||
| ENST00000529867.5:c.378G>T | ENSP00000434438.1:p.Leu126= | |
| ENST00000529927.5:c.387G>T | ENSP00000436766.1:p.Leu129= | |
| ENST00000530014.5:n.709G>T | ||
| ENST00000530103.5:c.*308G>T | ENSP00000434575.1:n.*308G>T | |
| ENST00000530638.1:c.297G>T | ENSP00000436936.1:p.Leu99= | |
| ENST00000532244.5:c.111G>T | ENSP00000435202.1:p.Leu37= | |
| ENST00000532303.5:c.111G>T | ENSP00000432015.1:p.Leu37= | |
| ENST00000532343.5:c.111G>T | ENSP00000431751.1:p.Leu37= | |
| ENST00000533075.5:c.393G>T | ENSP00000437267.1:p.Leu131= | |
| ENST00000534139.5:n.530G>T | ||
| NM_001166102.1:c.387G>T | NP_001159574.1:p.Leu129= | |
| NM_007103.3:c.414G>T | NP_009034.2:p.Leu138= | |
| NM_001166102.2:c.387G>T | NP_001159574.1:p.Leu129= | |
| NM_007103.4:c.414G>T MANE Select | NP_009034.2:p.Leu138= |