Linked Data
ClinVar Variation Id:
43187
ClinVar RCV Id:
RCV000036091
RCV000724180
RCV000988606
RCV001110090
RCV001114121
RCV001276694
RCV001526685
dbSNP Id:
rs200454015
ExAC:
11:76891450 C / T
gnomAD v2:
11-76891450-C-T
gnomAD v3:
11-77180404-C-T
gnomAD v4:
11-77180404-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77180404C>T , CM000673.2:g.77180404C>T | GRCh38 |
| NC_000011.9:g.76891450C>T , CM000673.1:g.76891450C>T | GRCh37 |
| NC_000011.8:g.76569098C>T | NCBI36 |
| NG_009086.1:g.57141C>T | |
| NG_009086.2:g.57159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.2617C>T MANE Select | ENSP00000386331.3:p.Arg873Trp | |
| ENST00000409893.6:c.682C>T | ENSP00000386689.2:p.Arg228Trp | |
| ENST00000670577.1:c.458C>T | ||
| ENST00000409619.6:c.2584C>T | ENSP00000386635.2:p.Arg862Trp | |
| ENST00000409709.7:c.2617C>T | ENSP00000386331.3:p.Arg873Trp | |
| ENST00000409893.5:c.2617C>T | ENSP00000386689.1:p.Arg873Trp | |
| ENST00000458169.2:c.160C>T | ENSP00000417017.2:p.Arg54Trp | |
| ENST00000458637.6:c.2617C>T | ENSP00000392185.2:p.Arg873Trp | |
| ENST00000481328.7:n.160C>T | ||
| ENST00000620575.4:c.2617C>T | ENSP00000477640.1:p.Arg873Trp | |
| NM_000260.3:c.2617C>T | NP_000251.3:p.Arg873Trp | |
| NM_001127179.2:c.2617C>T | NP_001120651.2:p.Arg873Trp | |
| NM_001127180.1:c.2617C>T | NP_001120652.1:p.Arg873Trp | |
| XM_005274012.2:c.2617C>T | XP_005274069.1:p.Arg873Trp | |
| XM_006718558.2:c.2617C>T | XP_006718621.1:p.Arg873Trp | |
| XM_006718559.2:c.2617C>T | XP_006718622.1:p.Arg873Trp | |
| XM_006718560.2:c.2617C>T | XP_006718623.1:p.Arg873Trp | |
| XM_006718561.2:c.2617C>T | XP_006718624.1:p.Arg873Trp | |
| XM_011545044.1:c.2617C>T | XP_011543346.1:p.Arg873Trp | |
| XM_011545045.1:c.2617C>T | XP_011543347.1:p.Arg873Trp | |
| XM_011545046.1:c.2584C>T | XP_011543348.1:p.Arg862Trp | |
| XM_011545047.1:c.2617C>T | XP_011543349.1:p.Arg873Trp | |
| XM_011545048.1:c.2398C>T | XP_011543350.1:p.Arg800Trp | |
| XM_011545049.1:c.2386C>T | XP_011543351.1:p.Arg796Trp | |
| XM_011545050.1:c.2359C>T | XP_011543352.1:p.Arg787Trp | |
| XM_011545051.1:c.2617C>T | XP_011543353.1:p.Arg873Trp | |
| XM_011545052.1:c.2617C>T | XP_011543354.1:p.Arg873Trp | |
| XR_949938.1:n.2937C>T | ||
| XR_949941.1:n.2937C>T | ||
| XR_949942.1:n.2939C>T | ||
| XR_949943.1:n.2939C>T | ||
| XM_011545044.2:c.2617C>T | XP_011543346.1:p.Arg873Trp | |
| XM_011545046.2:c.2707C>T | XP_011543348.2:p.Arg903Trp | |
| XM_011545050.2:c.2359C>T | XP_011543352.1:p.Arg787Trp | |
| XM_017017778.1:c.2707C>T | XP_016873267.1:p.Arg903Trp | |
| XM_017017779.1:c.2707C>T | XP_016873268.1:p.Arg903Trp | |
| XM_017017780.1:c.2707C>T | XP_016873269.1:p.Arg903Trp | |
| XM_017017781.1:c.2707C>T | XP_016873270.1:p.Arg903Trp | |
| XM_017017782.1:c.2707C>T | XP_016873271.1:p.Arg903Trp | |
| XM_017017783.1:c.2707C>T | XP_016873272.1:p.Arg903Trp | |
| XM_017017784.1:c.2707C>T | XP_016873273.1:p.Arg903Trp | |
| XM_017017785.1:c.2476C>T | XP_016873274.1:p.Arg826Trp | |
| XM_017017786.1:c.2707C>T | XP_016873275.1:p.Arg903Trp | |
| XM_017017787.1:c.2707C>T | XP_016873276.1:p.Arg903Trp | |
| XM_017017788.1:c.2707C>T | XP_016873277.1:p.Arg903Trp | |
| XR_001747885.1:n.2722C>T | ||
| XR_001747886.1:n.2722C>T | ||
| XR_001747887.1:n.2722C>T | ||
| XR_001747888.1:n.2722C>T | ||
| XR_001747889.1:n.2722C>T | ||
| NM_000260.4:c.2617C>T MANE Select | NP_000251.3:p.Arg873Trp | |
| NM_001127180.2:c.2617C>T | NP_001120652.1:p.Arg873Trp | |
| NM_001369365.1:c.2584C>T | NP_001356294.1:p.Arg862Trp |