Linked Data
dbSNP Id:
rs767799187
ExAC:
2:233404495 T / C
gnomAD v2:
2-233404495-T-C
gnomAD v4:
2-232539785-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232539785T>C , CM000664.2:g.232539785T>C | GRCh38 |
| NC_000002.11:g.233404495T>C , CM000664.1:g.233404495T>C | GRCh37 |
| NC_000002.10:g.233112739T>C | NCBI36 |
| NG_012954.1:g.5059T>C | |
| NG_012954.2:g.5094T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.38T>C MANE Select | ENSP00000498757.1:p.Leu13Pro | |
| ENST00000389492.3:c.38T>C | ENSP00000374143.3:p.Leu13Pro | |
| ENST00000389494.7:c.38T>C | ENSP00000374145.3:p.Leu13Pro | |
| ENST00000485094.1:n.59T>C | ||
| NM_005199.4:c.38T>C | NP_005190.4:p.Leu13Pro | |
| NM_005199.5:c.38T>C MANE Select | NP_005190.4:p.Leu13Pro |