Linked Data
ClinVar Variation Id:
446311
ClinVar RCV Id:
RCV000515594
dbSNP Id:
rs559371453
ExAC:
16:1561138 A / G
gnomAD v2:
16-1561138-A-G
gnomAD v3:
16-1511137-A-G
gnomAD v4:
16-1511137-A-G
PubMed:
PMID:26216056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1511137A>G , CM000678.2:g.1511137A>G | GRCh38 |
| NC_000016.9:g.1561138A>G , CM000678.1:g.1561138A>G | GRCh37 |
| NC_000016.8:g.1501139A>G | NCBI36 |
| NG_032783.1:g.105972T>C | |
| NG_050910.1:g.22794A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4196T>C MANE Select | ENSP00000406012.2:p.Leu1399Pro | |
| ENST00000361339.9:c.1778T>C | ENSP00000354895.5:p.Leu593Pro | |
| ENST00000397417.6:c.*2634T>C | ENSP00000380562.2:n.*2634T>C | |
| ENST00000426508.6:c.4196T>C | ENSP00000406012.2:p.Leu1399Pro | |
| ENST00000565298.5:n.4020T>C | ||
| NM_014714.3:c.4196T>C | NP_055529.2:p.Leu1399Pro | |
| XM_006720989.2:c.4196T>C | XP_006721052.1:p.Leu1399Pro | |
| XM_006720990.2:c.4196T>C | XP_006721053.1:p.Leu1399Pro | |
| XM_006720991.2:c.4196T>C | XP_006721054.1:p.Leu1399Pro | |
| XM_006720992.2:c.1829T>C | XP_006721055.1:p.Leu610Pro | |
| XM_011522766.1:c.3950T>C | XP_011521068.1:p.Leu1317Pro | |
| XM_011522767.1:c.3221T>C | XP_011521069.1:p.Leu1074Pro | |
| XM_006720990.3:c.4196T>C | XP_006721053.1:p.Leu1399Pro | |
| XM_006720991.3:c.4196T>C | XP_006721054.1:p.Leu1399Pro | |
| XM_006720992.3:c.1829T>C | XP_006721055.1:p.Leu610Pro | |
| XM_011522766.3:c.3950T>C | XP_011521068.1:p.Leu1317Pro | |
| XM_011522767.2:c.3221T>C | XP_011521069.1:p.Leu1074Pro | |
| XM_017023910.1:c.4196T>C | XP_016879399.1:p.Leu1399Pro | |
| XM_017023911.1:c.2381T>C | XP_016879400.1:p.Leu794Pro | |
| NM_014714.4:c.4196T>C MANE Select | NP_055529.2:p.Leu1399Pro |