Linked Data
gnomAD v4:
X-49255447-C-T
COSMIC:
COSM5953968
MyVariant Identifiers:
chrX:g.49111908C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49255447C>T , CM000685.2:g.49255447C>T | GRCh38 |
| NC_000023.10:g.49111908C>T , CM000685.1:g.49111908C>T | GRCh37 |
| NC_000023.9:g.48998852C>T | NCBI36 |
| NG_007392.1:g.14381G>A , LRG_62:g.14381G>A | |
| NG_021311.2:g.24983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.693G>A | ENSP00000365372.2:p.Leu231= | |
| ENST00000376207.10:c.798G>A MANE Select | ENSP00000365380.4:p.Leu266= | |
| ENST00000455775.7:c.867G>A | ENSP00000396415.3:p.Leu289= | |
| ENST00000518685.6:c.735+268G>A | ENSP00000428952.2:n.735+268G>A | |
| ENST00000557224.6:c.693G>A | ENSP00000451208.1:p.Leu231= | |
| ENST00000651307.1:c.798G>A | ENSP00000498454.1:p.Leu266= | |
| ENST00000376197.1:c.648G>A | ENSP00000365369.1:p.Leu216= | |
| ENST00000376199.6:c.693G>A | ENSP00000365372.2:p.Leu231= | |
| ENST00000376207.8:c.798G>A | ENSP00000365380.4:p.Leu266= | |
| ENST00000455775.6:c.867G>A | ENSP00000396415.3:p.Leu289= | |
| ENST00000518685.5:c.693G>A | ENSP00000428952.1:p.Leu231= | |
| ENST00000557224.5:c.693G>A | ENSP00000451208.1:p.Leu231= | |
| NM_001114377.1:c.693G>A | NP_001107849.1:p.Leu231= | |
| NM_014009.3:c.798G>A , LRG_62t1:c.798G>A | NP_054728.2:p.Leu266= | |
| XM_006724533.2:c.867G>A | XP_006724596.2:p.Leu289= | |
| XM_011543915.1:c.1017G>A | XP_011542217.1:p.Leu339= | |
| XM_011543916.1:c.1017G>A | XP_011542218.1:p.Leu339= | |
| XM_011543917.1:c.816G>A | XP_011542219.1:p.Leu272= | |
| XM_011543918.1:c.1053G>A | XP_011542220.1:p.Leu351= | |
| XM_011543919.1:c.1017G>A | XP_011542221.1:p.Leu339= | |
| XM_017029567.1:c.744G>A | XP_016885056.1:p.Leu248= | |
| NM_001114377.2:c.693G>A | NP_001107849.1:p.Leu231= | |
| NM_014009.4:c.798G>A MANE Select | NP_054728.2:p.Leu266= |