Linked Data
dbSNP Id:
rs756307320
ExAC:
2:20205742 A / G
gnomAD v2:
2-20205742-A-G
gnomAD v4:
2-20005981-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005981A>G , CM000664.2:g.20005981A>G | GRCh38 |
| NC_000002.11:g.20205742A>G , CM000664.1:g.20205742A>G | GRCh37 |
| NC_000002.10:g.20069223A>G | NCBI36 |
| NG_008087.1:g.11714T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.553T>C MANE Select | ENSP00000383894.3:p.Ser185Pro | |
| ENST00000407540.7:c.553T>C | ENSP00000383894.3:p.Ser185Pro | |
| ENST00000421259.2:c.553T>C | ENSP00000398753.2:p.Ser185Pro | |
| NM_002381.4:c.553T>C | NP_002372.1:p.Ser185Pro | |
| NM_002381.5:c.553T>C MANE Select | NP_002372.1:p.Ser185Pro |