Linked Data
dbSNP Id:
rs1042838
ExAC:
11:100933412 C / A
gnomAD v2:
11-100933412-C-A
gnomAD v3:
11-101062681-C-A
gnomAD v4:
11-101062681-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101062681C>A , CM000673.2:g.101062681C>A | GRCh38 |
| NC_000011.9:g.100933412C>A , CM000673.1:g.100933412C>A | GRCh37 |
| NC_000011.8:g.100438622C>A | NCBI36 |
| NG_016475.1:g.72133G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325455.10:c.1978G>T MANE Select | ENSP00000325120.5:p.Val660Leu | |
| ENST00000263463.9:c.1907-11113G>T | ENSP00000263463.5:n.1907-11113G>T | |
| ENST00000325455.9:c.1978G>T | ENSP00000325120.5:p.Val660Leu | |
| ENST00000526300.5:c.1907-11113G>T | ENSP00000436803.1:n.1907-11113G>T | |
| ENST00000528960.5:c.1861G>T | ENSP00000432914.1:p.Val621Leu | |
| ENST00000533207.5:n.1345G>T | ||
| ENST00000534013.5:c.196G>T | ENSP00000436561.1:p.Val66Leu | |
| ENST00000534780.5:c.1978G>T | ENSP00000432352.1:p.Val660Leu | |
| ENST00000617858.4:c.1907-11113G>T | ENSP00000481227.1:n.1907-11113G>T | |
| ENST00000619228.2:c.1861G>T | ENSP00000482698.1:p.Val621Leu | |
| ENST00000632634.1:c.400G>T | ENSP00000487607.1:p.Val134Leu | |
| NM_000926.4:c.1978G>T MANE Select | NP_000917.3:p.Val660Leu | |
| NM_001202474.3:c.1486G>T | NP_001189403.1:p.Val496Leu | |
| NM_001271161.2:c.1415-11113G>T | NP_001258090.1:n.1415-11113G>T | |
| NM_001271162.1:c.196G>T | NP_001258091.1:p.Val66Leu | |
| NR_073141.2:n.1971G>T | ||
| NR_073142.2:n.1854G>T | ||
| NR_073143.2:n.1900-11113G>T | ||
| XM_006718858.2:c.1978G>T | XP_006718921.1:p.Val660Leu | |
| XR_947831.1:n.3550G>T | ||
| XM_006718858.3:c.1978G>T | XP_006718921.1:p.Val660Leu | |
| NM_001271162.2:c.196G>T | NP_001258091.1:p.Val66Leu | |
| NR_073141.3:n.1985G>T | ||
| NR_073142.3:n.1868G>T | ||
| NR_073143.3:n.1914-11113G>T |