Linked Data
dbSNP Id:
rs1600197235
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673837T>G , CM000682.2:g.10673837T>G | GRCh38 |
| NC_000020.10:g.10654485T>G , CM000682.1:g.10654485T>G | GRCh37 |
| NC_000020.9:g.10602485T>G | NCBI36 |
| NG_007496.1:g.5210A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-307A>C MANE Select | ENSP00000254958.4:n.-307A>C | |
| ENST00000254958.9:c.-307A>C | ENSP00000254958.4:n.-307A>C | |
| NM_000214.2:c.-307A>C | NP_000205.1:n.-307A>C | |
| NM_000214.3:c.-307A>C MANE Select | NP_000205.1:n.-307A>C |