Linked Data
dbSNP Id:
rs779358433
ExAC:
19:39998061 T / G
gnomAD v2:
19-39998061-T-G
gnomAD v3:
19-39507421-T-G
gnomAD v4:
19-39507421-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39507421T>G , CM000681.2:g.39507421T>G | GRCh38 |
| NC_000019.9:g.39998061T>G , CM000681.1:g.39998061T>G | GRCh37 |
| NC_000019.8:g.44689901T>G | NCBI36 |
| NG_008256.1:g.13505T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.1476T>G MANE Select | ENSP00000348810.4:p.Leu492= | |
| ENST00000205143.4:c.1476T>G | ENSP00000205143.3:p.Leu492= | |
| ENST00000356433.9:c.1476T>G | ENSP00000348810.4:p.Leu492= | |
| NM_016941.3:c.1476T>G | NP_058637.1:p.Leu492= | |
| NM_203486.2:c.1476T>G | NP_982353.1:p.Leu492= | |
| NM_016941.4:c.1476T>G | NP_058637.1:p.Leu492= | |
| NM_203486.3:c.1476T>G MANE Select | NP_982353.1:p.Leu492= |