Linked Data
dbSNP Id:
rs1442803954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986042A>G , CM000678.2:g.1986042A>G | GRCh38 |
| NC_000016.9:g.2036043A>G , CM000678.1:g.2036043A>G | GRCh37 |
| NC_000016.8:g.1976044A>G | NCBI36 |
| NG_016288.1:g.6894A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.*14A>G | ENSP00000455885.1:n.*14A>G | |
| ENST00000248114.7:c.*14A>G MANE Select | ENSP00000248114.6:n.*14A>G | |
| ENST00000248114.6:c.*14A>G | ENSP00000248114.6:n.*14A>G | |
| ENST00000565658.1:n.789A>G | ||
| ENST00000567719.1:c.*14A>G | ENSP00000455885.1:n.*14A>G | |
| ENST00000569451.1:c.*105A>G | ENSP00000456432.1:n.*105A>G | |
| NM_005262.2:c.*14A>G | NP_005253.3:n.*14A>G | |
| NM_005262.3:c.*14A>G MANE Select | NP_005253.3:n.*14A>G |