Linked Data
dbSNP Id:
rs1397821854
gnomAD v2:
5-158742893-G-C
gnomAD v3:
5-159315885-G-C
gnomAD v4:
5-159315885-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159315885G>C , CM000667.2:g.159315885G>C | GRCh38 |
| NC_000005.9:g.158742893G>C , CM000667.1:g.158742893G>C | GRCh37 |
| NC_000005.8:g.158675471G>C | NCBI36 |
| NG_009618.1:g.19589C>G , LRG_71:g.19589C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.*216C>G | ENSP00000512849.1:n.*216C>G | |
| ENST00000696751.1:c.*698C>G | ENSP00000512850.1:n.*698C>G | |
| ENST00000231228.3:c.*216C>G MANE Select | ENSP00000231228.2:n.*216C>G | |
| ENST00000231228.2:c.*216C>G | ENSP00000231228.2:n.*216C>G | |
| NM_002187.2:c.*216C>G , LRG_71t1:c.*216C>G | NP_002178.2:n.*216C>G | |
| NM_002187.3:c.*216C>G MANE Select | NP_002178.2:n.*216C>G |