Linked Data
dbSNP Id:
rs2092590447
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149926385G>A , CM000663.2:g.149926385G>A | GRCh38 |
| NC_000001.10:g.149898277G>A , CM000663.1:g.149898277G>A | GRCh37 |
| NC_000001.9:g.148164901G>A | NCBI36 |
| NG_032777.1:g.6868C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.697C>T MANE Select | ENSP00000271628.8:p.Pro233Ser | |
| ENST00000271628.8:c.697C>T | ENSP00000271628.8:p.Pro233Ser | |
| ENST00000457312.1:c.568C>T | ENSP00000391114.1:p.Pro190Ser | |
| NM_005850.4:c.697C>T | NP_005841.1:p.Pro233Ser | |
| NM_005850.5:c.697C>T MANE Select | NP_005841.1:p.Pro233Ser |