Linked Data
ClinVar Variation Id:
317996
dbSNP Id:
rs775044452
ExAC:
16:1570217 G / A
gnomAD v2:
16-1570217-G-A
gnomAD v3:
16-1520216-G-A
gnomAD v4:
16-1520216-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1520216G>A , CM000678.2:g.1520216G>A | GRCh38 |
| NC_000016.9:g.1570217G>A , CM000678.1:g.1570217G>A | GRCh37 |
| NC_000016.8:g.1510218G>A | NCBI36 |
| NG_032783.1:g.96893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.3788C>T MANE Select | ENSP00000406012.2:p.Pro1263Leu | |
| ENST00000361339.9:c.1370C>T | ENSP00000354895.5:p.Pro457Leu | |
| ENST00000397417.6:c.*2226C>T | ENSP00000380562.2:n.*2226C>T | |
| ENST00000426508.6:c.3788C>T | ENSP00000406012.2:p.Pro1263Leu | |
| ENST00000565298.5:n.3612C>T | ||
| NM_014714.3:c.3788C>T | NP_055529.2:p.Pro1263Leu | |
| XM_006720989.2:c.3788C>T | XP_006721052.1:p.Pro1263Leu | |
| XM_006720990.2:c.3788C>T | XP_006721053.1:p.Pro1263Leu | |
| XM_006720991.2:c.3788C>T | XP_006721054.1:p.Pro1263Leu | |
| XM_006720992.2:c.1421C>T | XP_006721055.1:p.Pro474Leu | |
| XM_011522766.1:c.3542C>T | XP_011521068.1:p.Pro1181Leu | |
| XM_011522767.1:c.2813C>T | XP_011521069.1:p.Pro938Leu | |
| XM_006720990.3:c.3788C>T | XP_006721053.1:p.Pro1263Leu | |
| XM_006720991.3:c.3788C>T | XP_006721054.1:p.Pro1263Leu | |
| XM_006720992.3:c.1421C>T | XP_006721055.1:p.Pro474Leu | |
| XM_011522766.3:c.3542C>T | XP_011521068.1:p.Pro1181Leu | |
| XM_011522767.2:c.2813C>T | XP_011521069.1:p.Pro938Leu | |
| XM_017023910.1:c.3788C>T | XP_016879399.1:p.Pro1263Leu | |
| XM_017023911.1:c.1973C>T | XP_016879400.1:p.Pro658Leu | |
| NM_014714.4:c.3788C>T MANE Select | NP_055529.2:p.Pro1263Leu |