Linked Data
dbSNP Id:
rs1889616975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005694C>T , CM000676.2:g.75005694C>T | GRCh38 |
| NC_000014.8:g.75472397C>T , CM000676.1:g.75472397C>T | GRCh37 |
| NC_000014.7:g.74542150C>T | NCBI36 |
| NG_013333.1:g.7786C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.598-172C>T MANE Select | ENSP00000266126.5:n.598-172C>T | |
| ENST00000266126.9:c.598-172C>T | ENSP00000266126.5:n.598-172C>T | |
| ENST00000553401.5:c.571-147C>T | ENSP00000451681.1:n.571-147C>T | |
| ENST00000556028.5:c.598-203C>T | ENSP00000452311.1:n.598-203C>T | |
| NM_014239.3:c.598-172C>T | NP_055054.1:n.598-172C>T | |
| NM_014239.4:c.598-172C>T MANE Select | NP_055054.1:n.598-172C>T |