Linked Data
ClinVar Variation Id:
1696564
ClinVar RCV Id:
RCV002266694
dbSNP Id:
rs779815130
ExAC:
5:58270522 C / A
gnomAD v2:
5-58270522-C-A
gnomAD v3:
5-58974695-C-A
gnomAD v4:
5-58974695-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.58974695C>A , CM000667.2:g.58974695C>A | GRCh38 |
| NC_000005.9:g.58270522C>A , CM000667.1:g.58270522C>A | GRCh37 |
| NC_000005.8:g.58306279C>A | NCBI36 |
| NG_027957.1:g.1518404G>T | |
| NG_027957.2:g.1554635G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.2207G>T | ENSP00000424852.1:p.Cys736Phe | |
| ENST00000340635.11:c.2399G>T MANE Select | ENSP00000345502.6:p.Cys800Phe | |
| ENST00000636120.1:c.2069G>T | ENSP00000490821.1:p.Cys690Phe | |
| ENST00000317118.12:c.1526G>T | ENSP00000321739.8:p.Cys509Phe | |
| ENST00000340635.10:c.2399G>T | ENSP00000345502.6:p.Cys800Phe | |
| ENST00000358923.10:c.1493G>T | ENSP00000351800.6:p.Cys498Phe | |
| ENST00000360047.9:c.1991G>T | ENSP00000353152.5:p.Cys664Phe | |
| ENST00000405755.6:c.2033G>T | ENSP00000384806.2:p.Cys678Phe | |
| ENST00000502484.6:c.2216G>T | ENSP00000423094.2:p.Cys739Phe | |
| ENST00000503258.5:c.2009G>T | ENSP00000425605.1:p.Cys670Phe | |
| ENST00000507116.5:c.2207G>T | ENSP00000424852.1:p.Cys736Phe | |
| ENST00000515011.5:n.2135G>T | ||
| ENST00000546160.5:c.2006G>T | ENSP00000442734.2:p.Cys669Phe | |
| NM_001104631.1:c.2399G>T | NP_001098101.1:p.Cys800Phe | |
| NM_001165899.1:c.2216G>T | NP_001159371.1:p.Cys739Phe | |
| NM_001197218.1:c.2207G>T | NP_001184147.1:p.Cys736Phe | |
| NM_001197219.1:c.2033G>T | NP_001184148.1:p.Cys678Phe | |
| NM_001197220.1:c.2009G>T | NP_001184149.1:p.Cys670Phe | |
| NM_001197221.1:c.1493G>T | NP_001184150.1:p.Cys498Phe | |
| NM_001197222.1:c.1727G>T | NP_001184151.1:p.Cys576Phe | |
| NM_001197223.1:c.1526G>T | NP_001184152.1:p.Cys509Phe | |
| NM_006203.4:c.1991G>T | NP_006194.2:p.Cys664Phe | |
| XM_005248537.2:c.2069G>T | XP_005248594.1:p.Cys690Phe | |
| XM_005248538.3:c.1991G>T | XP_005248595.1:p.Cys664Phe | |
| XM_011543469.1:c.2363G>T | XP_011541771.1:p.Cys788Phe | |
| XM_011543470.1:c.2363G>T | XP_011541772.1:p.Cys788Phe | |
| XM_011543471.1:c.2216G>T | XP_011541773.1:p.Cys739Phe | |
| XM_011543472.1:c.2216G>T | XP_011541774.1:p.Cys739Phe | |
| XM_011543473.1:c.2216G>T | XP_011541775.1:p.Cys739Phe | |
| XM_011543474.1:c.2186G>T | XP_011541776.1:p.Cys729Phe | |
| XM_011543475.1:c.2033G>T | XP_011541777.1:p.Cys678Phe | |
| XM_011543476.1:c.1979G>T | XP_011541778.1:p.Cys660Phe | |
| XM_011543477.1:c.1958G>T | XP_011541779.1:p.Cys653Phe | |
| XM_011543478.1:c.1895G>T | XP_011541780.1:p.Cys632Phe | |
| XM_011543479.1:c.1895G>T | XP_011541781.1:p.Cys632Phe | |
| NM_001349241.1:c.2186G>T | NP_001336170.1:p.Cys729Phe | |
| NM_001349242.1:c.2069G>T | NP_001336171.1:p.Cys690Phe | |
| NM_001349243.1:c.1631G>T | NP_001336172.1:p.Cys544Phe | |
| NM_001364599.1:c.2216G>T | NP_001351528.1:p.Cys739Phe | |
| NM_001364603.1:c.1493G>T | NP_001351532.1:p.Cys498Phe | |
| NM_001364604.1:c.1631G>T | NP_001351533.1:p.Cys544Phe | |
| XM_011543470.2:c.2363G>T | XP_011541772.1:p.Cys788Phe | |
| XM_011543471.2:c.2216G>T | XP_011541773.1:p.Cys739Phe | |
| XM_017009565.1:c.2363G>T | XP_016865054.1:p.Cys788Phe | |
| XM_017009566.1:c.2216G>T | XP_016865055.1:p.Cys739Phe | |
| XM_017009567.1:c.2201G>T | XP_016865056.1:p.Cys734Phe | |
| XM_024446110.1:c.2363G>T | XP_024301878.1:p.Cys788Phe | |
| XM_024446112.1:c.2216G>T | XP_024301880.1:p.Cys739Phe | |
| NM_001104631.2:c.2399G>T MANE Select | NP_001098101.1:p.Cys800Phe | |
| NM_001165899.2:c.2216G>T | NP_001159371.1:p.Cys739Phe | |
| NM_001197218.2:c.2207G>T | NP_001184147.1:p.Cys736Phe | |
| NM_001197219.2:c.2033G>T | NP_001184148.1:p.Cys678Phe | |
| NM_001197220.2:c.2009G>T | NP_001184149.1:p.Cys670Phe | |
| NM_001197221.2:c.1493G>T | NP_001184150.1:p.Cys498Phe | |
| NM_001197222.2:c.1727G>T | NP_001184151.1:p.Cys576Phe | |
| NM_001197223.2:c.1526G>T | NP_001184152.1:p.Cys509Phe | |
| NM_001349241.2:c.2186G>T | NP_001336170.1:p.Cys729Phe | |
| NM_001349243.2:c.1631G>T | NP_001336172.1:p.Cys544Phe | |
| NM_001349242.2:c.2069G>T | NP_001336171.1:p.Cys690Phe | |
| NM_006203.5:c.1991G>T | NP_006194.2:p.Cys664Phe |