Linked Data
dbSNP Id:
rs2060478325
gnomAD v4:
15-22903741-G-A
MyVariant Identifiers:
chr15:g.22969327C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903741G>A , CM000677.2:g.22903741G>A | GRCh38 |
| NC_000015.9:g.22969327C>T , CM000677.1:g.22969327C>T | GRCh37 |
| NC_000015.8:g.20520768C>T | NCBI36 |
| NG_054889.1:g.82166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2547C>T | ENSP00000479802.2:p.Phe849= | |
| ENST00000617928.5:c.2553C>T MANE Select | ENSP00000481038.1:p.Phe851= | |
| ENST00000610365.4:c.2553C>T | ENSP00000478779.1:p.Phe851= | |
| ENST00000617556.4:c.1260C>T | ENSP00000480525.1:p.Phe420= | |
| ENST00000617928.4:c.2553C>T | ENSP00000481038.1:p.Phe851= | |
| ENST00000619348.4:n.1700C>T | ||
| NM_001033028.1:c.1260C>T | NP_001028200.1:p.Phe420= | |
| NM_001287810.1:c.2553C>T | NP_001274739.1:p.Phe851= | |
| NM_014608.3:c.2553C>T | NP_055423.1:p.Phe851= | |
| XM_011543873.1:c.2952C>T | XP_011542175.1:p.Phe984= | |
| XM_011543874.1:c.2952C>T | XP_011542176.1:p.Phe984= | |
| XM_011543875.1:c.2952C>T | XP_011542177.1:p.Phe984= | |
| XM_011543876.1:c.2547C>T | XP_011542178.1:p.Phe849= | |
| NM_001033028.2:c.1260C>T | NP_001028200.1:p.Phe420= | |
| NM_001287810.3:c.2553C>T | NP_001274739.1:p.Phe851= | |
| NM_001324119.2:c.2655C>T | NP_001311048.1:p.Phe885= | |
| NM_001324120.2:c.2553C>T | NP_001311049.1:p.Phe851= | |
| NM_001324122.2:c.873C>T | NP_001311051.1:p.Phe291= | |
| NM_001324123.2:c.2553C>T | NP_001311052.1:p.Phe851= | |
| NM_001324124.2:c.2463C>T | NP_001311053.1:p.Phe821= | |
| NM_001324125.2:c.2187C>T | NP_001311054.1:p.Phe729= | |
| NM_001324126.2:c.2451C>T | NP_001311055.1:p.Phe817= | |
| NM_014608.5:c.2553C>T | NP_055423.1:p.Phe851= | |
| XM_011543873.3:c.2952C>T | XP_011542175.1:p.Phe984= | |
| XM_011543874.2:c.2952C>T | XP_011542176.1:p.Phe984= | |
| XM_011543876.3:c.2649C>T | XP_011542178.2:p.Phe883= | |
| XM_017022023.2:c.3054C>T | XP_016877512.1:p.Phe1018= | |
| XM_017022024.2:c.2952C>T | XP_016877513.1:p.Phe984= | |
| XM_024449876.1:c.2952C>T | XP_024305644.1:p.Phe984= | |
| XM_024449877.1:c.2553C>T | XP_024305645.1:p.Phe851= | |
| NM_014608.6:c.2553C>T MANE Select | NP_055423.1:p.Phe851= | |
| NM_001287810.4:c.2553C>T | NP_001274739.1:p.Phe851= | |
| NM_001324122.3:c.873C>T | NP_001311051.1:p.Phe291= | |
| NM_001324123.3:c.2553C>T | NP_001311052.1:p.Phe851= | |
| NM_001324124.3:c.2463C>T | NP_001311053.1:p.Phe821= | |
| NM_001324125.3:c.2187C>T | NP_001311054.1:p.Phe729= | |
| NM_001324126.3:c.2451C>T | NP_001311055.1:p.Phe817= | |
| NM_001033028.3:c.1260C>T | NP_001028200.1:p.Phe420= |