Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417099C>A , CM000678.2:g.23417099C>A | GRCh38 |
| NC_000016.9:g.23428420C>A , CM000678.1:g.23428420C>A | GRCh37 |
| NC_000016.8:g.23335921C>A | NCBI36 |
| NG_021287.1:g.41093G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1160G>T MANE Select | ENSP00000305442.5:p.Cys387Phe | |
| ENST00000307149.9:c.1160G>T | ENSP00000305442.5:p.Cys387Phe | |
| ENST00000567821.1:n.195G>T | ||
| NM_153603.3:c.1160G>T | NP_705831.1:p.Cys387Phe | |
| XR_429680.1:n.1376G>T | ||
| XM_017023870.1:c.965G>T | XP_016879359.1:p.Cys322Phe | |
| XR_002957852.1:n.1381G>T | ||
| XR_429680.2:n.1381G>T | ||
| NM_153603.4:c.1160G>T MANE Select | NP_705831.1:p.Cys387Phe |