Linked Data
dbSNP Id:
rs1399802163
gnomAD v2:
2-20205831-G-C
gnomAD v3:
2-20006070-G-C
gnomAD v4:
2-20006070-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20006070G>C , CM000664.2:g.20006070G>C | GRCh38 |
| NC_000002.11:g.20205831G>C , CM000664.1:g.20205831G>C | GRCh37 |
| NC_000002.10:g.20069312G>C | NCBI36 |
| NG_008087.1:g.11625C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.464C>G MANE Select | ENSP00000383894.3:p.Pro155Arg | |
| ENST00000407540.7:c.464C>G | ENSP00000383894.3:p.Pro155Arg | |
| ENST00000421259.2:c.464C>G | ENSP00000398753.2:p.Pro155Arg | |
| NM_002381.4:c.464C>G | NP_002372.1:p.Pro155Arg | |
| NM_002381.5:c.464C>G MANE Select | NP_002372.1:p.Pro155Arg |