Linked Data
dbSNP Id:
rs1967970219
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713721T>G , CM000681.2:g.6713721T>G | GRCh38 |
| NC_000019.9:g.6713732T>G , CM000681.1:g.6713732T>G | GRCh37 |
| NC_000019.8:g.6664732T>G | NCBI36 |
| NG_009557.1:g.11931A>C , LRG_27:g.11931A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-212A>C | ENSP00000512083.1:n.651-212A>C | |
| ENST00000245907.11:c.774-212A>C MANE Select | ENSP00000245907.4:n.774-212A>C | |
| ENST00000245907.10:c.774-212A>C | ENSP00000245907.4:n.774-212A>C | |
| ENST00000595577.1:n.278-212A>C | ||
| ENST00000597442.5:n.23+45A>C | ||
| NM_000064.3:c.774-212A>C | NP_000055.2:n.774-212A>C | |
| NM_000064.4:c.774-212A>C MANE Select | NP_000055.2:n.774-212A>C |