Linked Data
ClinVar Variation Id:
2787100
ClinVar RCV Id:
RCV003660565
dbSNP Id:
rs774937094
ExAC:
5:58511641 T / G
gnomAD v2:
5-58511641-T-G
gnomAD v4:
5-59215815-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59215815T>G , CM000667.2:g.59215815T>G | GRCh38 |
| NC_000005.9:g.58511641T>G , CM000667.1:g.58511641T>G | GRCh37 |
| NC_000005.8:g.58547398T>G | NCBI36 |
| NG_027957.1:g.1277285A>C | |
| NG_027957.2:g.1313515A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.417A>C | ENSP00000424852.1:p.Pro139= | |
| ENST00000340635.11:c.609A>C MANE Select | ENSP00000345502.6:p.Pro203= | |
| ENST00000636120.1:c.279A>C | ENSP00000490821.1:p.Pro93= | |
| ENST00000638939.1:c.174A>C | ENSP00000492052.1:p.Pro58= | |
| ENST00000309641.10:c.417A>C | ENSP00000308485.6:p.Pro139= | |
| ENST00000340635.10:c.609A>C | ENSP00000345502.6:p.Pro203= | |
| ENST00000360047.9:c.201A>C | ENSP00000353152.5:p.Pro67= | |
| ENST00000405053.7:n.272A>C | ||
| ENST00000405755.6:c.243A>C | ENSP00000384806.2:p.Pro81= | |
| ENST00000502484.6:c.426A>C | ENSP00000423094.2:p.Pro142= | |
| ENST00000502575.1:c.417A>C | ENSP00000425917.1:p.Pro139= | |
| ENST00000503258.5:c.219A>C | ENSP00000425605.1:p.Pro73= | |
| ENST00000505453.1:c.-98-176844A>C | ENSP00000421013.1:n.-98-176844A>C | |
| ENST00000507116.5:c.417A>C | ENSP00000424852.1:p.Pro139= | |
| ENST00000514231.1:n.372A>C | ||
| ENST00000515324.1:n.121A>C | ||
| ENST00000546160.5:c.216A>C | ENSP00000442734.2:p.Pro72= | |
| ENST00000621323.4:n.154A>C | ||
| NM_001104631.1:c.609A>C | NP_001098101.1:p.Pro203= | |
| NM_001165899.1:c.426A>C | NP_001159371.1:p.Pro142= | |
| NM_001197218.1:c.417A>C | NP_001184147.1:p.Pro139= | |
| NM_001197219.1:c.243A>C | NP_001184148.1:p.Pro81= | |
| NM_001197220.1:c.219A>C | NP_001184149.1:p.Pro73= | |
| NM_006203.4:c.201A>C | NP_006194.2:p.Pro67= | |
| XM_005248537.2:c.279A>C | XP_005248594.1:p.Pro93= | |
| XM_005248538.3:c.201A>C | XP_005248595.1:p.Pro67= | |
| XM_011543469.1:c.573A>C | XP_011541771.1:p.Pro191= | |
| XM_011543470.1:c.573A>C | XP_011541772.1:p.Pro191= | |
| XM_011543471.1:c.426A>C | XP_011541773.1:p.Pro142= | |
| XM_011543472.1:c.426A>C | XP_011541774.1:p.Pro142= | |
| XM_011543473.1:c.426A>C | XP_011541775.1:p.Pro142= | |
| XM_011543474.1:c.396A>C | XP_011541776.1:p.Pro132= | |
| XM_011543475.1:c.243A>C | XP_011541777.1:p.Pro81= | |
| XM_011543476.1:c.189A>C | XP_011541778.1:p.Pro63= | |
| XM_011543477.1:c.168A>C | XP_011541779.1:p.Pro56= | |
| XM_011543478.1:c.105A>C | XP_011541780.1:p.Pro35= | |
| XM_011543479.1:c.105A>C | XP_011541781.1:p.Pro35= | |
| NM_001349241.1:c.396A>C | NP_001336170.1:p.Pro132= | |
| NM_001349242.1:c.279A>C | NP_001336171.1:p.Pro93= | |
| NM_001349243.1:c.-86A>C | NP_001336172.1:n.-86A>C | |
| NM_001364599.1:c.426A>C | NP_001351528.1:p.Pro142= | |
| NM_001364600.1:c.426A>C | NP_001351529.1:p.Pro142= | |
| NM_001364601.1:c.417A>C | NP_001351530.1:p.Pro139= | |
| NM_001364602.1:c.417A>C | NP_001351531.1:p.Pro139= | |
| NM_001364603.1:c.-342A>C | NP_001351532.1:n.-342A>C | |
| NM_001364604.1:c.-86A>C | NP_001351533.1:n.-86A>C | |
| XM_011543470.2:c.573A>C | XP_011541772.1:p.Pro191= | |
| XM_011543471.2:c.426A>C | XP_011541773.1:p.Pro142= | |
| XM_017009565.1:c.573A>C | XP_016865054.1:p.Pro191= | |
| XM_017009566.1:c.426A>C | XP_016865055.1:p.Pro142= | |
| XM_017009567.1:c.411A>C | XP_016865056.1:p.Pro137= | |
| XM_024446110.1:c.573A>C | XP_024301878.1:p.Pro191= | |
| XM_024446112.1:c.426A>C | XP_024301880.1:p.Pro142= | |
| NM_001104631.2:c.609A>C MANE Select | NP_001098101.1:p.Pro203= | |
| NM_001165899.2:c.426A>C | NP_001159371.1:p.Pro142= | |
| NM_001197218.2:c.417A>C | NP_001184147.1:p.Pro139= | |
| NM_001197219.2:c.243A>C | NP_001184148.1:p.Pro81= | |
| NM_001197220.2:c.219A>C | NP_001184149.1:p.Pro73= | |
| NM_001349241.2:c.396A>C | NP_001336170.1:p.Pro132= | |
| NM_001349243.2:c.-86A>C | NP_001336172.1:n.-86A>C | |
| NM_001364600.2:c.426A>C | NP_001351529.1:p.Pro142= | |
| NM_001364602.2:c.417A>C | NP_001351531.1:p.Pro139= | |
| NM_001349242.2:c.279A>C | NP_001336171.1:p.Pro93= | |
| NM_006203.5:c.201A>C | NP_006194.2:p.Pro67= |