Linked Data
dbSNP Id:
rs181206
ExAC:
16:28513403 A / G
gnomAD v2:
16-28513403-A-G
gnomAD v3:
16-28502082-A-G
gnomAD v4:
16-28502082-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28502082A>G , CM000678.2:g.28502082A>G | GRCh38 |
| NC_000016.9:g.28513403A>G , CM000678.1:g.28513403A>G | GRCh37 |
| NC_000016.8:g.28420904A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356897.1:c.356T>C MANE Select | ENSP00000349365.1:p.Leu119Pro | |
| ENST00000568075.1:c.-38T>C | ENSP00000455990.1:n.-38T>C | |
| NM_145659.3:c.356T>C MANE Select | NP_663634.2:p.Leu119Pro | |
| XM_011545780.1:c.362T>C | XP_011544082.1:p.Leu121Pro | |
| XM_011545780.2:c.362T>C | XP_011544082.1:p.Leu121Pro |