Linked Data
dbSNP Id:
rs1213043141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204165361T>G , CM000663.2:g.204165361T>G | GRCh38 |
| NC_000001.10:g.204134489T>G , CM000663.1:g.204134489T>G | GRCh37 |
| NC_000001.9:g.202401112T>G | NCBI36 |
| NG_012122.1:g.5977A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.98+835A>C MANE Select | ENSP00000272190.8:n.98+835A>C | |
| ENST00000638118.1:c.-16-3198A>C | ENSP00000490307.1:n.-16-3198A>C | |
| ENST00000272190.8:c.98+835A>C | ENSP00000272190.8:n.98+835A>C | |
| NM_000537.3:c.98+835A>C | NP_000528.1:n.98+835A>C | |
| NM_000537.4:c.98+835A>C MANE Select | NP_000528.1:n.98+835A>C |