Linked Data
gnomAD v4:
8-19951898-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951898T>G , CM000670.2:g.19951898T>G | GRCh38 |
| NC_000008.10:g.19809409T>G , CM000670.1:g.19809409T>G | GRCh37 |
| NC_000008.9:g.19853689T>G | NCBI36 |
| NG_008855.1:g.17828T>G | |
| NG_008855.2:g.55182T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.379T>G MANE Select | ENSP00000497642.1:p.Tyr127Asp | |
| ENST00000311322.8:c.379T>G | ENSP00000309757.6:p.Tyr127Asp | |
| ENST00000520959.5:c.151T>G | ENSP00000428496.1:p.Tyr51Asp | |
| ENST00000524029.5:c.379T>G | ENSP00000428237.1:p.Tyr127Asp | |
| NM_000237.2:c.379T>G | NP_000228.1:p.Tyr127Asp | |
| NM_000237.3:c.379T>G MANE Select | NP_000228.1:p.Tyr127Asp |