Linked Data
gnomAD v4:
X-29917595-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29917595A>G , CM000685.2:g.29917595A>G | GRCh38 |
| NC_000023.10:g.29935712A>G , CM000685.1:g.29935712A>G | GRCh37 |
| NC_000023.9:g.29845633A>G | NCBI36 |
| NG_008292.1:g.1335032A>G | |
| NG_008292.2:g.1335032A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.910A>G MANE Select | ENSP00000368278.1:p.Arg304Gly | |
| ENST00000302196.5:c.133A>G | ENSP00000305200.5:p.Arg45Gly | |
| ENST00000378993.5:c.910A>G | ENSP00000368278.1:p.Arg304Gly | |
| NM_014271.3:c.910A>G | NP_055086.1:p.Arg304Gly | |
| XM_005274441.1:c.910A>G | XP_005274498.1:p.Arg304Gly | |
| XM_011545445.1:c.910A>G | XP_011543747.1:p.Arg304Gly | |
| XM_017029240.1:c.910A>G | XP_016884729.1:p.Arg304Gly | |
| XM_017029241.1:c.532A>G | XP_016884730.1:p.Arg178Gly | |
| NM_014271.4:c.910A>G MANE Select | NP_055086.1:p.Arg304Gly |