Linked Data
ClinVar Variation Id:
1795573
dbSNP Id:
rs200481058
ExAC:
18:59713134 C / T
gnomAD v2:
18-59713134-C-T
gnomAD v4:
18-62045901-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62045901C>T , CM000680.2:g.62045901C>T | GRCh38 |
| NC_000018.9:g.59713134C>T , CM000680.1:g.59713134C>T | GRCh37 |
| NC_000018.8:g.57864114C>T | NCBI36 |
| NG_033144.1:g.146156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357637.10:c.2751G>A | ENSP00000350263.4:p.Thr917= | |
| ENST00000638167.1:c.2349G>A | ENSP00000491549.1:p.Thr783= | |
| ENST00000638369.1:c.2568G>A | ENSP00000491811.1:p.Thr856= | |
| ENST00000638424.1:c.*719G>A | ENSP00000491963.1:n.*719G>A | |
| ENST00000638435.1:c.2520G>A | ENSP00000491850.1:p.Thr840= | |
| ENST00000638858.1:n.2847G>A | ||
| ENST00000638904.1:c.*759G>A | ENSP00000491318.1:n.*759G>A | |
| ENST00000638936.1:c.2751G>A | ENSP00000492592.1:p.Thr917= | |
| ENST00000638977.1:c.2691G>A | ENSP00000491010.1:p.Thr897= | |
| ENST00000639342.1:c.2499G>A | ENSP00000491022.1:p.Thr833= | |
| ENST00000639372.1:c.694G>A | ||
| ENST00000639491.1:n.1381G>A | ||
| ENST00000639600.1:c.2142+26772G>A | ||
| ENST00000639681.1:c.*2008G>A | ENSP00000491929.1:n.*2008G>A | |
| ENST00000639758.1:c.2691G>A | ENSP00000491475.1:p.Thr897= | |
| ENST00000639902.1:c.2868G>A | ENSP00000490965.1:p.Thr956= | |
| ENST00000639912.1:c.2691G>A | ENSP00000490970.1:p.Thr897= | |
| ENST00000640050.1:c.2751G>A | ENSP00000492051.1:p.Thr917= | |
| ENST00000640145.1:c.2751G>A | ENSP00000491525.1:p.Thr917= | |
| ENST00000640170.1:c.*2111G>A | ENSP00000491270.1:n.*2111G>A | |
| ENST00000640252.2:c.2751G>A MANE Select | ENSP00000492233.1:p.Thr917= | |
| ENST00000640268.1:c.*1140G>A | ENSP00000491111.1:n.*1140G>A | |
| ENST00000640540.1:c.2868G>A | ENSP00000491620.1:p.Thr956= | |
| ENST00000640593.1:c.*1709G>A | ENSP00000492017.1:n.*1709G>A | |
| ENST00000640682.1:c.1894G>A | ENSP00000491415.1:n.1894G>A | |
| ENST00000640876.1:c.2751G>A | ENSP00000491628.1:p.Thr917= | |
| ENST00000357637.9:c.2751G>A | ENSP00000350263.4:p.Thr917= | |
| ENST00000400334.7:c.2751G>A | ENSP00000383188.2:p.Thr917= | |
| ENST00000587942.1:n.1618G>A | ||
| NM_012327.5:c.2751G>A | NP_036459.1:p.Thr917= | |
| NM_176787.4:c.2751G>A | NP_789744.1:p.Thr917= | |
| XM_011525889.1:c.2868G>A | XP_011524191.1:p.Thr956= | |
| XM_011525890.1:c.2868G>A | XP_011524192.1:p.Thr956= | |
| XM_011525891.1:c.2868G>A | XP_011524193.1:p.Thr956= | |
| XM_011525892.1:c.2868G>A | XP_011524194.1:p.Thr956= | |
| XM_011525893.1:c.2868G>A | XP_011524195.1:p.Thr956= | |
| XM_011525894.1:c.2868G>A | XP_011524196.1:p.Thr956= | |
| XM_011525895.1:c.2868G>A | XP_011524197.1:p.Thr956= | |
| XM_011525896.1:c.2811G>A | XP_011524198.1:p.Thr937= | |
| XM_011525897.1:c.2808G>A | XP_011524199.1:p.Thr936= | |
| XM_017025685.1:c.2466G>A | XP_016881174.1:p.Thr822= | |
| XM_017025686.1:c.2349G>A | XP_016881175.1:p.Thr783= | |
| NM_176787.5:c.2751G>A MANE Select | NP_789744.1:p.Thr917= | |
| NM_012327.6:c.2751G>A | NP_036459.1:p.Thr917= |