Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344423C>A , CM000667.2:g.128344423C>A | GRCh38 |
| NC_000005.9:g.127680115C>A , CM000667.1:g.127680115C>A | GRCh37 |
| NC_000005.8:g.127708014C>A | NCBI36 |
| NG_008750.1:g.198621G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.3305G>T MANE Select | ENSP00000262464.4:p.Ser1102Ile | |
| ENST00000262464.8:c.3305G>T | ENSP00000262464.4:p.Ser1102Ile | |
| ENST00000508053.5:c.3305G>T | ENSP00000424571.1:p.Ser1102Ile | |
| ENST00000508989.5:c.3206G>T | ENSP00000425596.1:p.Ser1069Ile | |
| ENST00000619499.4:c.3302G>T | ENSP00000482132.1:p.Ser1101Ile | |
| NM_001999.3:c.3305G>T | NP_001990.2:p.Ser1102Ile | |
| XM_017009228.2:c.3152G>T | XP_016864717.1:p.Ser1051Ile | |
| NM_001999.4:c.3305G>T MANE Select | NP_001990.2:p.Ser1102Ile |