Linked Data
dbSNP Id:
rs1361465647
gnomAD v2:
5-96139109-A-G
gnomAD v3:
5-96803406-A-G
gnomAD v4:
5-96803406-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96803406A>G , CM000667.2:g.96803406A>G | GRCh38 |
| NC_000005.9:g.96139109A>G , CM000667.1:g.96139109A>G | GRCh37 |
| NC_000005.8:g.96164865A>G | NCBI36 |
| NG_027839.1:g.15740T>C | |
| NG_027839.2:g.137578T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443439.7:c.521T>C MANE Select | ENSP00000406304.2:p.Leu174Pro | |
| ENST00000296754.7:c.521T>C | ENSP00000296754.3:p.Leu174Pro | |
| ENST00000443439.6:c.521T>C | ENSP00000406304.2:p.Leu174Pro | |
| ENST00000503921.5:c.-64T>C | ENSP00000427025.1:n.-64T>C | |
| ENST00000508227.5:c.-44T>C | ENSP00000422631.1:n.-44T>C | |
| NM_001040458.1:c.521T>C | NP_001035548.1:p.Leu174Pro | |
| NM_001198541.1:c.521T>C | NP_001185470.1:p.Leu174Pro | |
| NM_016442.3:c.521T>C | NP_057526.3:p.Leu174Pro | |
| XM_005272015.3:c.521T>C | XP_005272072.1:p.Leu174Pro | |
| XM_005272016.3:c.521T>C | XP_005272073.1:p.Leu174Pro | |
| XM_011543480.1:c.521T>C | XP_011541782.1:p.Leu174Pro | |
| XM_011543481.1:c.521T>C | XP_011541783.1:p.Leu174Pro | |
| XM_011543482.1:c.521T>C | XP_011541784.1:p.Leu174Pro | |
| XM_011543483.1:c.521T>C | XP_011541785.1:p.Leu174Pro | |
| XM_011543484.1:c.521T>C | XP_011541786.1:p.Leu174Pro | |
| XM_011543485.1:c.521T>C | XP_011541787.1:p.Leu174Pro | |
| XM_011543486.1:c.521T>C | XP_011541788.1:p.Leu174Pro | |
| XM_011543487.1:c.521T>C | XP_011541789.1:p.Leu174Pro | |
| NM_001040458.2:c.521T>C | NP_001035548.1:p.Leu174Pro | |
| NM_001198541.2:c.521T>C | NP_001185470.1:p.Leu174Pro | |
| NM_001349244.1:c.521T>C | NP_001336173.1:p.Leu174Pro | |
| NM_016442.4:c.521T>C | NP_057526.3:p.Leu174Pro | |
| XM_005272015.5:c.521T>C | XP_005272072.1:p.Leu174Pro | |
| XM_005272016.4:c.521T>C | XP_005272073.1:p.Leu174Pro | |
| XM_011543480.2:c.521T>C | XP_011541782.1:p.Leu174Pro | |
| XM_011543481.2:c.521T>C | XP_011541783.1:p.Leu174Pro | |
| XM_011543484.2:c.521T>C | XP_011541786.1:p.Leu174Pro | |
| XM_011543485.2:c.521T>C | XP_011541787.1:p.Leu174Pro | |
| XM_011543486.3:c.521T>C | XP_011541788.1:p.Leu174Pro | |
| XM_017009581.1:c.521T>C | XP_016865070.1:p.Leu174Pro | |
| XM_017009583.2:c.-522T>C | XP_016865072.1:n.-522T>C | |
| XM_024446113.1:c.521T>C | XP_024301881.1:p.Leu174Pro | |
| XR_001742119.2:n.814T>C | ||
| NM_001040458.3:c.521T>C MANE Select | NP_001035548.1:p.Leu174Pro | |
| NM_001198541.3:c.521T>C | NP_001185470.1:p.Leu174Pro | |
| NM_001349244.2:c.521T>C | NP_001336173.1:p.Leu174Pro | |
| NM_016442.5:c.521T>C | NP_057526.3:p.Leu174Pro |