dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43127985C>T , CM000684.2:g.43127985C>T | GRCh38 |
| NC_000022.10:g.43523991C>T , CM000684.1:g.43523991C>T | GRCh37 |
| NC_000022.9:g.41853935C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216115.3:c.260+190C>T MANE Select | ENSP00000216115.2:n.260+190C>T | |
| ENST00000216115.2:c.260+190C>T | ENSP00000216115.2:n.260+190C>T | |
| NM_001197.4:c.260+190C>T | NP_001188.1:n.260+190C>T | |
| NM_001197.5:c.260+190C>T MANE Select | NP_001188.1:n.260+190C>T |