Linked Data
dbSNP Id:
rs527870166
ExAC:
10:55566344 G / C
gnomAD v2:
10-55566344-G-C
gnomAD v4:
10-53806584-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806584G>C , CM000672.2:g.53806584G>C | GRCh38 |
| NC_000010.10:g.55566344G>C , CM000672.1:g.55566344G>C | GRCh37 |
| NC_000010.9:g.55236350G>C | NCBI36 |
| NG_009191.2:g.999708C>G | |
| NG_009191.3:g.1827599C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642496.1:c.4077C>G | ||
| ENST00000644397.2:c.5218C>G MANE Select | ENSP00000495195.1:p.Leu1740Val | |
| ENST00000373965.6:c.5029C>G | ENSP00000363076.3:p.Leu1677Val | |
| ENST00000414778.5:c.5026C>G | ENSP00000410304.2:p.Leu1676Val | |
| ENST00000495484.5:c.1246C>G | ENSP00000480780.1:p.Leu416Val | |
| ENST00000614895.4:c.5041C>G | ENSP00000478512.1:p.Leu1681Val | |
| ENST00000616114.4:c.5023C>G | ENSP00000483745.1:p.Leu1675Val | |
| ENST00000618301.4:c.1378C>G | ENSP00000482780.1:p.Leu460Val | |
| ENST00000621708.4:c.5044C>G | ENSP00000484454.1:p.Leu1682Val | |
| NM_001142771.1:c.5044C>G | NP_001136243.1:p.Leu1682Val | |
| NM_001142772.1:c.5029C>G | NP_001136244.1:p.Leu1677Val | |
| NM_001354420.1:c.5023C>G | NP_001341349.1:p.Leu1675Val | |
| NM_001354429.1:c.5152C>G | NP_001341358.1:p.Leu1718Val | |
| XR_001747192.2:n.11510C>G | ||
| XR_001747193.2:n.11501C>G | ||
| NM_001142771.2:c.5044C>G | NP_001136243.1:p.Leu1682Val | |
| NM_001142772.2:c.5029C>G | NP_001136244.1:p.Leu1677Val | |
| NM_001354420.2:c.5023C>G | NP_001341349.1:p.Leu1675Val | |
| NM_001354429.2:c.5152C>G | NP_001341358.1:p.Leu1718Val | |
| NM_001384140.1:c.5218C>G MANE Select | NP_001371069.1:p.Leu1740Val |