Linked Data
dbSNP Id:
rs2064383092
gnomAD v4:
X-41474711-C-T
MyVariant Identifiers:
chrX:g.41333964C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41474711C>T , CM000685.2:g.41474711C>T | GRCh38 |
| NC_000023.10:g.41333964C>T , CM000685.1:g.41333964C>T | GRCh37 |
| NC_000023.9:g.41218908C>T | NCBI36 |
| NG_009112.1:g.32252C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.1243C>T | ENSP00000340328.3:p.Leu415= | |
| ENST00000378220.3:c.1243C>T MANE Select | ENSP00000367465.2:p.Leu415= | |
| ENST00000378220.2:c.1258C>T | ENSP00000367465.1:p.Leu420= | |
| ENST00000342595.2:c.1258C>T | ENSP00000340328.2:p.Leu420= | |
| ENST00000378220.1:c.1258C>T | ENSP00000367465.1:p.Leu420= | |
| NM_022567.2:c.1258C>T | NP_072089.1:p.Leu420= | |
| XM_005272632.2:c.1258C>T | XP_005272689.1:p.Leu420= | |
| XM_017029709.1:c.1258C>T | XP_016885198.1:p.Leu420= | |
| NM_001378477.3:c.1243C>T MANE Select | NP_001365406.2:p.Leu415= | |
| NM_022567.3:c.1243C>T | NP_072089.2:p.Leu415= |