Linked Data
dbSNP Id:
rs988691412
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941693G>C , CM000672.2:g.94941693G>C | GRCh38 |
| NC_000010.10:g.96701450G>C , CM000672.1:g.96701450G>C | GRCh37 |
| NC_000010.9:g.96691440G>C | NCBI36 |
| NG_008385.1:g.8036G>C | |
| NG_008385.2:g.8536G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.169-165G>C MANE Select | ENSP00000260682.6:n.169-165G>C | |
| ENST00000643112.1:c.169-165G>C | ENSP00000496202.1:n.169-165G>C | |
| ENST00000645207.1:n.157G>C | ||
| ENST00000260682.6:c.169-165G>C | ENSP00000260682.6:n.169-165G>C | |
| ENST00000461906.1:n.194-165G>C | ||
| NM_000771.3:c.169-165G>C | NP_000762.2:n.169-165G>C | |
| NM_000771.4:c.169-165G>C MANE Select | NP_000762.2:n.169-165G>C |