Linked Data
dbSNP Id:
rs781909730
ExAC:
8:144810675 G / A
gnomAD v2:
8-144810675-G-A
gnomAD v3:
8-143728505-G-A
gnomAD v4:
8-143728505-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143728505G>A , CM000670.2:g.143728505G>A | GRCh38 |
| NC_000008.10:g.144810675G>A , CM000670.1:g.144810675G>A | GRCh37 |
| NC_000008.9:g.144882663G>A | NCBI36 |
| NG_016652.1:g.10240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388913.4:c.956C>T MANE Select | ENSP00000373565.3:p.Pro319Leu | |
| ENST00000650760.1:c.1559C>T | ENSP00000499217.1:p.Pro520Leu | |
| ENST00000388913.3:c.956C>T | ENSP00000373565.3:p.Pro319Leu | |
| ENST00000395103.2:c.136C>T | ||
| NM_198488.3:c.956C>T | NP_940890.3:p.Pro319Leu | |
| XM_005250887.2:c.1013C>T | XP_005250944.1:p.Pro338Leu | |
| XM_005250888.2:c.974C>T | XP_005250945.1:p.Pro325Leu | |
| XM_005250889.2:c.956C>T | XP_005250946.1:p.Pro319Leu | |
| XM_011516980.1:c.1277C>T | XP_011515282.1:p.Pro426Leu | |
| XM_011516981.1:c.1124C>T | XP_011515283.1:p.Pro375Leu | |
| XM_005250887.3:c.1013C>T | XP_005250944.1:p.Pro338Leu | |
| XM_005250888.3:c.974C>T | XP_005250945.1:p.Pro325Leu | |
| XM_005250889.3:c.956C>T | XP_005250946.1:p.Pro319Leu | |
| XM_011516980.2:c.1559C>T | XP_011515282.2:p.Pro520Leu | |
| XM_011516981.2:c.1124C>T | XP_011515283.1:p.Pro375Leu | |
| XM_024447131.1:c.956C>T | XP_024302899.1:p.Pro319Leu | |
| NM_198488.4:c.956C>T | NP_940890.3:p.Pro319Leu | |
| NM_198488.5:c.956C>T MANE Select | NP_940890.4:p.Pro319Leu |