MyVariant.info:
GRCh38
chrX:g.114657295A>T
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.114657295A>T , CM000685.2:g.114657295A>T | GRCh38 |
| NG_012082.2:g.78211A>T | |
| NG_012082.3:g.78211A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276198.6:c.-80+43414A>T MANE Select | ENSP00000276198.1:n.-80+43414A>T | |
| ENST00000276198.5:c.-80+43414A>T | ENSP00000276198.1:n.-80+43414A>T | |
| ENST00000371950.3:c.-80+43414A>T | ENSP00000361018.3:n.-80+43414A>T | |
| ENST00000371951.5:c.-171+43414A>T | ENSP00000361019.1:n.-171+43414A>T | |
| NM_000868.3:c.-80+43414A>T | NP_000859.1:n.-80+43414A>T | |
| NM_001256760.2:c.-171+43414A>T | NP_001243689.1:n.-171+43414A>T | |
| NM_001256761.2:c.-80+43414A>T | NP_001243690.1:n.-80+43414A>T | |
| NM_000868.4:c.-80+43414A>T MANE Select | NP_000859.2:n.-80+43414A>T | |
| NM_001256760.3:c.-171+43414A>T | NP_001243689.2:n.-171+43414A>T | |
| NM_001256761.3:c.-80+43414A>T | NP_001243690.2:n.-80+43414A>T |