Linked Data
gnomAD v4:
X-22093997-T-G
COSMIC:
COSM3372219
MyVariant Identifiers:
chrX:g.22112115T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22093997T>G , CM000685.2:g.22093997T>G | GRCh38 |
| NC_000023.10:g.22112115T>G , CM000685.1:g.22112115T>G | GRCh37 |
| NC_000023.9:g.22022036T>G | NCBI36 |
| NG_007563.2:g.66195T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.1173T>G | ||
| ENST00000684143.1:c.744T>G | ENSP00000508264.1:p.Leu248= | |
| ENST00000684745.1:n.421T>G | ||
| ENST00000379374.5:c.747T>G MANE Select | ENSP00000368682.4:p.Leu249= | |
| ENST00000379374.4:c.747T>G | ENSP00000368682.4:p.Leu249= | |
| ENST00000475778.1:n.20T>G | ||
| NM_000444.5:c.747T>G | NP_000435.3:p.Leu249= | |
| NM_001282754.1:c.747T>G | NP_001269683.1:p.Leu249= | |
| XM_011545533.1:c.-10T>G | XP_011543835.1:n.-10T>G | |
| XM_011545534.1:c.-10T>G | XP_011543836.1:n.-10T>G | |
| XM_011545535.1:c.747T>G | XP_011543837.1:p.Leu249= | |
| XM_017029579.1:c.-10T>G | XP_016885068.1:n.-10T>G | |
| XM_024452390.1:c.456T>G | XP_024308158.1:p.Leu152= | |
| XR_001755695.1:n.1426T>G | ||
| NM_000444.6:c.747T>G MANE Select | NP_000435.3:p.Leu249= | |
| NM_001282754.2:c.747T>G | NP_001269683.1:p.Leu249= |