Linked Data
dbSNP Id:
rs754940734
ExAC:
2:97427462 T / G
gnomAD v2:
2-97427462-T-G
gnomAD v4:
2-96761725-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96761725T>G , CM000664.2:g.96761725T>G | GRCh38 |
| NC_000002.11:g.97427462T>G , CM000664.1:g.97427462T>G | GRCh37 |
| NC_000002.10:g.96791189T>G | NCBI36 |
| NG_016608.1:g.5824T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.726T>G MANE Select | ENSP00000366275.2:p.Leu242= | |
| ENST00000377075.2:c.726T>G | ENSP00000366275.2:p.Leu242= | |
| NM_020184.3:c.726T>G | NP_064569.3:p.Leu242= | |
| XM_005263914.2:c.726T>G | XP_005263971.1:p.Leu242= | |
| XM_005263915.2:c.726T>G | XP_005263972.1:p.Leu242= | |
| XM_011510955.1:c.726T>G | XP_011509257.1:p.Leu242= | |
| XM_011510956.1:c.726T>G | XP_011509258.1:p.Leu242= | |
| XM_005263914.4:c.726T>G | XP_005263971.1:p.Leu242= | |
| XM_005263915.4:c.726T>G | XP_005263972.1:p.Leu242= | |
| XM_011510955.3:c.726T>G | XP_011509257.1:p.Leu242= | |
| XM_011510956.3:c.726T>G | XP_011509258.1:p.Leu242= | |
| NM_020184.4:c.726T>G MANE Select | NP_064569.3:p.Leu242= |