Linked Data
gnomAD v4:
1-154571641-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571641T>G , CM000663.2:g.154571641T>G | GRCh38 |
| NC_000001.10:g.154544117T>G , CM000663.1:g.154544117T>G | GRCh37 |
| NC_000001.9:g.152810741T>G | NCBI36 |
| NG_008027.1:g.8861T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.818T>G MANE Select | ENSP00000357461.3:p.Leu273Arg | |
| ENST00000636034.1:c.818T>G | ENSP00000489703.1:p.Leu273Arg | |
| ENST00000637900.1:c.824T>G | ENSP00000490474.1:p.Leu275Arg | |
| ENST00000368476.3:c.818T>G | ENSP00000357461.3:p.Leu273Arg | |
| NM_000748.2:c.818T>G | NP_000739.1:p.Leu273Arg | |
| XM_017000180.2:c.308T>G | XP_016855669.1:p.Leu103Arg | |
| XR_001736952.2:n.1070T>G | ||
| NM_000748.3:c.818T>G MANE Select | NP_000739.1:p.Leu273Arg |