Linked Data
MyVariant Identifiers:
chrX:g.136649114T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566955T>C , CM000685.2:g.137566955T>C | GRCh38 |
| NC_000023.10:g.136649114T>C , CM000685.1:g.136649114T>C | GRCh37 |
| NC_000023.9:g.136476780T>C | NCBI36 |
| NG_008115.1:g.5769T>C | |
| NG_008115.2:g.5829T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.264T>C MANE Select | ENSP00000287538.5:p.His88= | |
| ENST00000287538.9:c.264T>C | ENSP00000287538.5:p.His88= | |
| ENST00000370606.3:c.264T>C | ENSP00000359638.3:p.His88= | |
| NM_003413.3:c.264T>C | NP_003404.1:p.His88= | |
| NM_001330661.1:c.264T>C | NP_001317590.1:p.His88= | |
| NM_003413.4:c.264T>C MANE Select | NP_003404.1:p.His88= |