Linked Data
dbSNP Id:
rs772308526
ExAC:
17:8108317 G / A
gnomAD v2:
17-8108317-G-A
gnomAD v4:
17-8204999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8204999G>A , CM000679.2:g.8204999G>A | GRCh38 |
| NC_000017.10:g.8108317G>A , CM000679.1:g.8108317G>A | GRCh37 |
| NC_000017.9:g.8049042G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585124.6:c.907C>T MANE Select | ENSP00000463999.1:p.Leu303Phe | |
| ENST00000316199.10:c.910C>T | ENSP00000313950.6:p.Leu304Phe | |
| ENST00000534871.5:c.784C>T | ENSP00000443869.1:p.Leu262Phe | |
| ENST00000578549.5:c.811C>T | ENSP00000462207.1:p.Leu271Phe | |
| ENST00000578753.1:n.429C>T | ||
| ENST00000580998.5:c.*254C>T | ENSP00000461981.1:n.*254C>T | |
| ENST00000584972.5:c.599C>T | ||
| ENST00000585124.5:c.907C>T | ENSP00000463999.1:p.Leu303Phe | |
| NM_001256834.1:c.784C>T | NP_001243763.1:p.Leu262Phe | |
| NM_001256834.2:c.784C>T | NP_001243763.1:p.Leu262Phe | |
| NM_001284526.1:c.910C>T | NP_001271455.1:p.Leu304Phe | |
| NM_001313950.1:c.907C>T | NP_001300879.1:p.Leu303Phe | |
| NM_001313951.1:c.784C>T | NP_001300880.1:p.Leu262Phe | |
| NM_001313952.1:c.787C>T | NP_001300881.1:p.Leu263Phe | |
| NM_001313953.1:c.811C>T | NP_001300882.1:p.Leu271Phe | |
| NM_001313954.1:c.451C>T | NP_001300883.1:p.Leu151Phe | |
| NM_001313955.1:c.403C>T | NP_001300884.1:p.Leu135Phe | |
| NM_004217.3:c.907C>T | NP_004208.2:p.Leu303Phe | |
| NR_132730.1:n.887C>T | ||
| NR_132731.1:n.772C>T | ||
| XM_011524070.1:c.811C>T | XP_011522372.1:p.Leu271Phe | |
| XM_011524072.1:c.784C>T | XP_011522374.1:p.Leu262Phe | |
| XR_934118.1:n.1116C>T | ||
| NM_001313953.2:c.811C>T | NP_001300882.1:p.Leu271Phe | |
| XM_011524072.3:c.784C>T | XP_011522374.1:p.Leu262Phe | |
| XM_017025307.2:c.784C>T | XP_016880796.1:p.Leu262Phe | |
| XM_017025308.2:c.688C>T | XP_016880797.1:p.Leu230Phe | |
| XM_017025309.1:c.451C>T | XP_016880798.1:p.Leu151Phe | |
| XM_017025310.1:c.451C>T | XP_016880799.1:p.Leu151Phe | |
| XM_017025311.1:c.451C>T | XP_016880800.1:p.Leu151Phe | |
| NM_004217.4:c.907C>T MANE Select | NP_004208.2:p.Leu303Phe | |
| NM_001256834.3:c.784C>T | NP_001243763.1:p.Leu262Phe | |
| NM_001284526.2:c.910C>T | NP_001271455.1:p.Leu304Phe | |
| NM_001313950.2:c.907C>T | NP_001300879.1:p.Leu303Phe | |
| NM_001313952.2:c.787C>T | NP_001300881.1:p.Leu263Phe | |
| NM_001313953.3:c.811C>T | NP_001300882.1:p.Leu271Phe | |
| NM_001313954.2:c.451C>T | NP_001300883.1:p.Leu151Phe | |
| NM_001313955.2:c.403C>T | NP_001300884.1:p.Leu135Phe | |
| NR_132730.2:n.836C>T |