Linked Data
dbSNP Id:
rs745490648
ExAC:
3:47889765 G / T
gnomAD v2:
3-47889765-G-T
gnomAD v4:
3-47848275-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47848275G>T , CM000665.2:g.47848275G>T | GRCh38 |
| NC_000003.11:g.47889765G>T , CM000665.1:g.47889765G>T | GRCh37 |
| NC_000003.10:g.47864769G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445061.6:c.2382G>T MANE Select | ENSP00000405620.1:p.Leu794Phe | |
| ENST00000348968.8:c.2298G>T | ENSP00000343442.4:p.Leu766Phe | |
| ENST00000395745.6:c.*2282G>T | ENSP00000379094.2:n.*2282G>T | |
| ENST00000445061.5:c.2382G>T | ENSP00000405620.1:p.Leu794Phe | |
| ENST00000446256.6:c.2382G>T | ENSP00000392601.3:p.Leu794Phe | |
| ENST00000457607.1:c.2466G>T | ENSP00000394682.1:p.Leu822Phe | |
| ENST00000474183.1:n.499G>T | ||
| ENST00000619982.4:c.2265G>T | ENSP00000483160.1:p.Leu755Phe | |
| NM_014966.3:c.2265G>T | NP_055781.2:p.Leu755Phe | |
| NM_138615.2:c.2382G>T | NP_619520.1:p.Leu794Phe | |
| XM_006713033.1:c.2286G>T | XP_006713096.1:p.Leu762Phe | |
| XM_011533490.1:c.2595G>T | XP_011531792.1:p.Leu865Phe | |
| XM_011533491.1:c.2595G>T | XP_011531793.1:p.Leu865Phe | |
| XM_011533492.1:c.2595G>T | XP_011531794.1:p.Leu865Phe | |
| XM_011533493.1:c.2484G>T | XP_011531795.1:p.Leu828Phe | |
| XM_011533494.1:c.2382G>T | XP_011531796.1:p.Leu794Phe | |
| XM_011533495.1:c.2382G>T | XP_011531797.1:p.Leu794Phe | |
| XM_011533496.1:c.2298G>T | XP_011531798.1:p.Leu766Phe | |
| XM_011533497.1:c.2298G>T | XP_011531799.1:p.Leu766Phe | |
| XM_011533498.1:c.2298G>T | XP_011531800.1:p.Leu766Phe | |
| NM_001330990.1:c.2298G>T | NP_001317919.1:p.Leu766Phe | |
| XM_011533490.2:c.2595G>T | XP_011531792.1:p.Leu865Phe | |
| XM_011533494.3:c.2382G>T | XP_011531796.1:p.Leu794Phe | |
| XM_011533495.2:c.2382G>T | XP_011531797.1:p.Leu794Phe | |
| XM_011533497.2:c.2298G>T | XP_011531799.1:p.Leu766Phe | |
| XM_017005914.1:c.2514G>T | XP_016861403.1:p.Leu838Phe | |
| XM_017005915.1:c.2286G>T | XP_016861404.1:p.Leu762Phe | |
| XM_017005916.2:c.2271G>T | XP_016861405.1:p.Leu757Phe | |
| XM_017005917.1:c.2265G>T | XP_016861406.1:p.Leu755Phe | |
| XM_024453405.1:c.2484G>T | XP_024309173.1:p.Leu828Phe | |
| NM_138615.3:c.2382G>T MANE Select | NP_619520.1:p.Leu794Phe | |
| NM_001330990.2:c.2298G>T | NP_001317919.1:p.Leu766Phe | |
| NM_014966.4:c.2265G>T | NP_055781.2:p.Leu755Phe |