Linked Data
dbSNP Id:
rs2049944737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43929076A>C , CM000684.2:g.43929076A>C | GRCh38 |
| NC_000022.10:g.44324956A>C , CM000684.1:g.44324956A>C | GRCh37 |
| NC_000022.9:g.42656289A>C | NCBI36 |
| NG_008631.1:g.10338A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.486+187A>C MANE Select | ENSP00000216180.3:n.486+187A>C | |
| ENST00000216180.7:c.486+187A>C | ENSP00000216180.3:n.486+187A>C | |
| ENST00000406117.6:c.*118+187A>C | ENSP00000384668.2:n.*118+187A>C | |
| ENST00000423180.2:c.474+187A>C | ENSP00000397987.2:n.474+187A>C | |
| ENST00000478713.1:n.520+187A>C | ||
| NM_025225.2:c.486+187A>C | NP_079501.2:n.486+187A>C | |
| NM_025225.3:c.486+187A>C MANE Select | NP_079501.2:n.486+187A>C |