Linked Data
dbSNP Id:
rs754663945
gnomAD v2:
7-142655011-C-G
gnomAD v3:
7-142957924-C-G
gnomAD v4:
7-142957924-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957924C>G , CM000669.2:g.142957924C>G | GRCh38 |
| NC_000007.13:g.142655011C>G , CM000669.1:g.142655011C>G | GRCh37 |
| NC_000007.12:g.142365133C>G | NCBI36 |
| NG_007492.1:g.9493G>C | |
| NG_007492.2:g.9493G>C | |
| NG_007492.3:g.9493G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355265.7:c.575G>C MANE Select | ENSP00000347409.2:p.Arg192Pro | |
| ENST00000467543.6:c.*427G>C | ENSP00000420011.2:n.*427G>C | |
| ENST00000355265.6:c.575G>C | ENSP00000347409.2:p.Arg192Pro | |
| ENST00000467543.5:c.518G>C | ENSP00000420011.1:p.Arg173Pro | |
| ENST00000476829.5:c.525+380G>C | ENSP00000419889.1:n.525+380G>C | |
| ENST00000479768.6:n.693G>C | ||
| ENST00000494148.1:n.174G>C | ||
| NM_000420.2:c.575G>C | NP_000411.1:p.Arg192Pro | |
| XM_005249993.2:c.611G>C | XP_005250050.1:p.Arg204Pro | |
| NM_000420.3:c.575G>C MANE Select | NP_000411.1:p.Arg192Pro |