Linked Data
gnomAD v4:
X-29917494-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29917494T>G , CM000685.2:g.29917494T>G | GRCh38 |
| NC_000023.10:g.29935611T>G , CM000685.1:g.29935611T>G | GRCh37 |
| NC_000023.9:g.29845532T>G | NCBI36 |
| NG_008292.1:g.1334931T>G | |
| NG_008292.2:g.1334931T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.809T>G MANE Select | ENSP00000368278.1:p.Phe270Cys | |
| ENST00000302196.5:c.32T>G | ENSP00000305200.5:p.Phe11Cys | |
| ENST00000378993.5:c.809T>G | ENSP00000368278.1:p.Phe270Cys | |
| NM_014271.3:c.809T>G | NP_055086.1:p.Phe270Cys | |
| XM_005274441.1:c.809T>G | XP_005274498.1:p.Phe270Cys | |
| XM_011545445.1:c.809T>G | XP_011543747.1:p.Phe270Cys | |
| XM_017029240.1:c.809T>G | XP_016884729.1:p.Phe270Cys | |
| XM_017029241.1:c.431T>G | XP_016884730.1:p.Phe144Cys | |
| NM_014271.4:c.809T>G MANE Select | NP_055086.1:p.Phe270Cys |