Linked Data
ClinVar Variation Id:
737088
ClinVar RCV Id:
RCV000912812
dbSNP Id:
rs771595900
ExAC:
18:59713152 C / G
gnomAD v2:
18-59713152-C-G
gnomAD v3:
18-62045919-C-G
gnomAD v4:
18-62045919-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62045919C>G , CM000680.2:g.62045919C>G | GRCh38 |
| NC_000018.9:g.59713152C>G , CM000680.1:g.59713152C>G | GRCh37 |
| NC_000018.8:g.57864132C>G | NCBI36 |
| NG_033144.1:g.146138G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357637.10:c.2733G>C | ENSP00000350263.4:p.Leu911= | |
| ENST00000638167.1:c.2331G>C | ENSP00000491549.1:p.Leu777= | |
| ENST00000638369.1:c.2550G>C | ENSP00000491811.1:p.Leu850= | |
| ENST00000638424.1:c.*701G>C | ENSP00000491963.1:n.*701G>C | |
| ENST00000638435.1:c.2502G>C | ENSP00000491850.1:p.Leu834= | |
| ENST00000638858.1:n.2829G>C | ||
| ENST00000638904.1:c.*741G>C | ENSP00000491318.1:n.*741G>C | |
| ENST00000638936.1:c.2733G>C | ENSP00000492592.1:p.Leu911= | |
| ENST00000638977.1:c.2673G>C | ENSP00000491010.1:p.Leu891= | |
| ENST00000639342.1:c.2481G>C | ENSP00000491022.1:p.Leu827= | |
| ENST00000639372.1:c.676G>C | ||
| ENST00000639491.1:n.1363G>C | ||
| ENST00000639600.1:c.2142+26754G>C | ||
| ENST00000639681.1:c.*1990G>C | ENSP00000491929.1:n.*1990G>C | |
| ENST00000639758.1:c.2673G>C | ENSP00000491475.1:p.Leu891= | |
| ENST00000639902.1:c.2850G>C | ENSP00000490965.1:p.Leu950= | |
| ENST00000639912.1:c.2673G>C | ENSP00000490970.1:p.Leu891= | |
| ENST00000640050.1:c.2733G>C | ENSP00000492051.1:p.Leu911= | |
| ENST00000640145.1:c.2733G>C | ENSP00000491525.1:p.Leu911= | |
| ENST00000640170.1:c.*2093G>C | ENSP00000491270.1:n.*2093G>C | |
| ENST00000640252.2:c.2733G>C MANE Select | ENSP00000492233.1:p.Leu911= | |
| ENST00000640268.1:c.*1122G>C | ENSP00000491111.1:n.*1122G>C | |
| ENST00000640540.1:c.2850G>C | ENSP00000491620.1:p.Leu950= | |
| ENST00000640593.1:c.*1691G>C | ENSP00000492017.1:n.*1691G>C | |
| ENST00000640682.1:c.1876G>C | ENSP00000491415.1:n.1876G>C | |
| ENST00000640876.1:c.2733G>C | ENSP00000491628.1:p.Leu911= | |
| ENST00000357637.9:c.2733G>C | ENSP00000350263.4:p.Leu911= | |
| ENST00000400334.7:c.2733G>C | ENSP00000383188.2:p.Leu911= | |
| ENST00000587942.1:n.1600G>C | ||
| NM_012327.5:c.2733G>C | NP_036459.1:p.Leu911= | |
| NM_176787.4:c.2733G>C | NP_789744.1:p.Leu911= | |
| XM_011525889.1:c.2850G>C | XP_011524191.1:p.Leu950= | |
| XM_011525890.1:c.2850G>C | XP_011524192.1:p.Leu950= | |
| XM_011525891.1:c.2850G>C | XP_011524193.1:p.Leu950= | |
| XM_011525892.1:c.2850G>C | XP_011524194.1:p.Leu950= | |
| XM_011525893.1:c.2850G>C | XP_011524195.1:p.Leu950= | |
| XM_011525894.1:c.2850G>C | XP_011524196.1:p.Leu950= | |
| XM_011525895.1:c.2850G>C | XP_011524197.1:p.Leu950= | |
| XM_011525896.1:c.2793G>C | XP_011524198.1:p.Leu931= | |
| XM_011525897.1:c.2790G>C | XP_011524199.1:p.Leu930= | |
| XM_017025685.1:c.2448G>C | XP_016881174.1:p.Leu816= | |
| XM_017025686.1:c.2331G>C | XP_016881175.1:p.Leu777= | |
| NM_176787.5:c.2733G>C MANE Select | NP_789744.1:p.Leu911= | |
| NM_012327.6:c.2733G>C | NP_036459.1:p.Leu911= |