Linked Data
dbSNP Id:
rs532656624
ExAC:
4:110902124 G / T
gnomAD v2:
4-110902124-G-T
gnomAD v3:
4-109980968-G-T
gnomAD v4:
4-109980968-G-T
COSMIC:
COSM366483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109980968G>T , CM000666.2:g.109980968G>T | GRCh38 |
| NC_000004.11:g.110902124G>T , CM000666.1:g.110902124G>T | GRCh37 |
| NC_000004.10:g.111121573G>T | NCBI36 |
| NG_011441.1:g.73085G>T | |
| NG_011441.2:g.73085G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265171.10:c.2364G>T MANE Select | ENSP00000265171.5:p.Leu788= | |
| ENST00000652245.1:c.2238G>T | ENSP00000498337.1:p.Leu746= | |
| ENST00000265171.9:c.2364G>T | ENSP00000265171.5:p.Leu788= | |
| ENST00000503392.1:c.2364G>T | ENSP00000421384.1:p.Leu788= | |
| ENST00000509793.5:c.2238G>T | ENSP00000424316.1:p.Leu746= | |
| ENST00000509996.1:n.292G>T | ||
| ENST00000511228.5:n.328G>T | ||
| NM_001178130.1:c.2364G>T | NP_001171601.1:p.Leu788= | |
| NM_001178131.1:c.2238G>T | NP_001171602.1:p.Leu746= | |
| NM_001963.4:c.2364G>T | NP_001954.2:p.Leu788= | |
| XM_005262796.2:c.2364G>T | XP_005262853.1:p.Leu788= | |
| XM_005262797.2:c.2238G>T | XP_005262854.1:p.Leu746= | |
| XM_005262798.2:c.2364G>T | XP_005262855.1:p.Leu788= | |
| XM_005262800.2:c.2364G>T | XP_005262857.1:p.Leu788= | |
| XM_005262801.2:c.2364G>T | XP_005262858.1:p.Leu788= | |
| XM_006714124.2:c.2364G>T | XP_006714187.1:p.Leu788= | |
| XM_011531707.1:c.2253G>T | XP_011530009.1:p.Leu751= | |
| XM_011531708.1:c.2364G>T | XP_011530010.1:p.Leu788= | |
| XR_427532.2:n.2817G>T | ||
| XR_938699.1:n.2817G>T | ||
| NM_001178130.2:c.2364G>T | NP_001171601.1:p.Leu788= | |
| NM_001178131.2:c.2238G>T | NP_001171602.1:p.Leu746= | |
| NM_001357021.1:c.2238G>T | NP_001343950.1:p.Leu746= | |
| NM_001963.5:c.2364G>T | NP_001954.2:p.Leu788= | |
| XM_017007845.1:c.2388G>T | XP_016863334.1:p.Leu796= | |
| XM_017007846.1:c.2388G>T | XP_016863335.1:p.Leu796= | |
| XM_017007847.1:c.2388G>T | XP_016863336.1:p.Leu796= | |
| XM_017007848.1:c.2262G>T | XP_016863337.1:p.Leu754= | |
| XM_017007849.1:c.2388G>T | XP_016863338.1:p.Leu796= | |
| XM_017007850.1:c.2388G>T | XP_016863339.1:p.Leu796= | |
| XM_017007851.1:c.2388G>T | XP_016863340.1:p.Leu796= | |
| XM_017007853.1:c.2388G>T | XP_016863342.1:p.Leu796= | |
| XR_001741156.1:n.2841G>T | ||
| XR_001741157.1:n.2841G>T | ||
| NM_001178130.3:c.2364G>T | NP_001171601.1:p.Leu788= | |
| NM_001178131.3:c.2238G>T | NP_001171602.1:p.Leu746= | |
| NM_001357021.2:c.2238G>T | NP_001343950.1:p.Leu746= | |
| NM_001963.6:c.2364G>T MANE Select | NP_001954.2:p.Leu788= |