Linked Data
dbSNP Id:
rs118025694
ExAC:
1:16351310 T / G
gnomAD v2:
1-16351310-T-G
gnomAD v3:
1-16024815-T-G
gnomAD v4:
1-16024815-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16024815T>G , CM000663.2:g.16024815T>G | GRCh38 |
| NC_000001.10:g.16351310T>G , CM000663.1:g.16351310T>G | GRCh37 |
| NC_000001.9:g.16223897T>G | NCBI36 |
| NG_009359.1:g.7825T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331433.5:c.282T>G MANE Select | ENSP00000332771.4:p.Leu94= | |
| ENST00000331433.4:c.282T>G | ENSP00000332771.4:p.Leu94= | |
| ENST00000375692.5:c.282T>G | ENSP00000364844.1:p.Leu94= | |
| ENST00000439316.6:c.229+887T>G | ENSP00000414445.2:n.229+887T>G | |
| ENST00000464764.5:n.889-44T>G | ||
| ENST00000495784.1:n.440T>G | ||
| NM_001042704.1:c.282T>G | NP_001036169.1:p.Leu94= | |
| NM_001257139.1:c.229+887T>G | NP_001244068.1:n.229+887T>G | |
| NM_004070.3:c.282T>G | NP_004061.3:p.Leu94= | |
| NM_004070.4:c.282T>G MANE Select | NP_004061.3:p.Leu94= | |
| NM_001042704.2:c.282T>G | NP_001036169.1:p.Leu94= | |
| NM_001257139.2:c.229+887T>G | NP_001244068.1:n.229+887T>G |