Linked Data
dbSNP Id:
rs1240068700
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154576157G>C , CM000663.2:g.154576157G>C | GRCh38 |
| NC_000001.10:g.154548633G>C , CM000663.1:g.154548633G>C | GRCh37 |
| NC_000001.9:g.152815257G>C | NCBI36 |
| NG_008027.1:g.13377G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368476.4:c.*225G>C MANE Select | ENSP00000357461.3:n.*225G>C | |
| ENST00000636034.1:c.1505+229G>C | ENSP00000489703.1:n.1505+229G>C | |
| ENST00000637900.1:c.*225G>C | ENSP00000490474.1:n.*225G>C | |
| ENST00000368476.3:c.*225G>C | ENSP00000357461.3:n.*225G>C | |
| NM_000748.2:c.*225G>C | NP_000739.1:n.*225G>C | |
| XM_017000180.2:c.*225G>C | XP_016855669.1:n.*225G>C | |
| XR_001736952.2:n.1986G>C | ||
| NM_000748.3:c.*225G>C MANE Select | NP_000739.1:n.*225G>C |