Linked Data
ClinVar Variation Id:
3030729
ClinVar RCV Id:
RCV003893885
dbSNP Id:
rs931122932
gnomAD v3:
12-54283173-C-T
gnomAD v4:
12-54283173-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54283173C>T , CM000674.2:g.54283173C>T | GRCh38 |
| NC_000012.11:g.54676957C>T , CM000674.1:g.54676957C>T | GRCh37 |
| NC_000012.10:g.52963224C>T | NCBI36 |
| NG_033830.1:g.7470C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340913.11:c.846C>T MANE Select | ENSP00000341826.7:p.Gly282= | |
| ENST00000550482.2:c.751+299C>T | ENSP00000446486.2:n.751+299C>T | |
| ENST00000676472.1:c.54+41C>T | ||
| ENST00000676572.1:c.133+241C>T | ||
| ENST00000676707.1:c.79+295C>T | ||
| ENST00000676725.1:n.1081+299C>T | ||
| ENST00000676794.1:c.-74-639C>T | ENSP00000504819.1:n.-74-639C>T | |
| ENST00000676853.1:c.95C>T | ||
| ENST00000676886.1:c.84+11C>T | ||
| ENST00000676951.1:c.95C>T | ||
| ENST00000677191.1:c.186C>T | ||
| ENST00000677210.1:c.846C>T | ENSP00000503610.1:p.Gly282= | |
| ENST00000677220.1:c.132+1671C>T | ENSP00000502987.1:n.132+1671C>T | |
| ENST00000677224.1:c.24+350C>T | ||
| ENST00000677249.1:c.748+299C>T | ENSP00000503649.1:n.748+299C>T | |
| ENST00000677279.1:c.21+353C>T | ||
| ENST00000677375.1:c.751+299C>T | ENSP00000503651.1:n.751+299C>T | |
| ENST00000677385.1:c.*455C>T | ENSP00000502985.1:n.*455C>T | |
| ENST00000677488.1:c.16-41C>T | ||
| ENST00000677539.1:c.228C>T | ||
| ENST00000677636.1:c.94-639C>T | ||
| ENST00000677645.1:c.188C>T | ||
| ENST00000677778.1:c.75+299C>T | ||
| ENST00000677945.1:c.93+508C>T | ||
| ENST00000678077.1:c.616+299C>T | ENSP00000504814.1:n.616+299C>T | |
| ENST00000678212.1:c.75+299C>T | ||
| ENST00000678279.1:n.66+308C>T | ||
| ENST00000678347.1:c.188C>T | ||
| ENST00000678365.1:n.48+2351C>T | ||
| ENST00000678412.1:c.95C>T | ||
| ENST00000678418.1:n.1042C>T | ||
| ENST00000678424.1:c.95C>T | ||
| ENST00000678448.1:c.115-654C>T | ENSP00000503619.1:n.115-654C>T | |
| ENST00000678456.1:c.75+299C>T | ||
| ENST00000678513.1:c.42+332C>T | ||
| ENST00000678581.1:c.95C>T | ||
| ENST00000678597.1:c.39+562C>T | ||
| ENST00000678611.1:c.95C>T | ||
| ENST00000678873.1:c.90+511C>T | ||
| ENST00000678876.1:c.93+508C>T | ||
| ENST00000678934.1:c.69+532C>T | ||
| ENST00000678947.1:c.16-35C>T | ||
| ENST00000678970.1:c.95C>T | ||
| ENST00000679063.1:c.79+295C>T | ||
| ENST00000679079.1:c.95C>T | ||
| ENST00000679228.1:n.1102+299C>T | ||
| ENST00000679273.1:c.103-654C>T | ENSP00000504626.1:n.103-654C>T | |
| ENST00000679319.1:n.75+299C>T | ||
| ENST00000679344.1:c.75+299C>T | ||
| ENST00000330752.12:c.712+299C>T | ENSP00000333504.8:n.712+299C>T | |
| ENST00000340913.10:c.846C>T | ENSP00000341826.6:p.Gly282= | |
| ENST00000546500.5:c.751+299C>T | ENSP00000448617.1:n.751+299C>T | |
| ENST00000547276.5:c.607+577C>T | ENSP00000447260.1:n.607+577C>T | |
| ENST00000547566.5:c.751+299C>T | ENSP00000449913.1:n.751+299C>T | |
| ENST00000547708.5:c.403+299C>T | ENSP00000448229.1:n.403+299C>T | |
| ENST00000550482.1:c.364+299C>T | ENSP00000446486.1:n.364+299C>T | |
| NM_002136.2:c.751+299C>T | NP_002127.1:n.751+299C>T | |
| NM_031157.2:c.846C>T | NP_112420.1:p.Gly282= | |
| XM_005268826.1:c.846C>T | XP_005268883.1:p.Gly282= | |
| XR_245923.1:n.958C>T | ||
| XR_245924.1:n.863+299C>T | ||
| NM_002136.3:c.751+299C>T | NP_002127.1:n.751+299C>T | |
| NM_031157.3:c.846C>T | NP_112420.1:p.Gly282= | |
| NR_135167.1:n.869+299C>T | ||
| XM_005268826.2:c.846C>T | XP_005268883.1:p.Gly282= | |
| XR_245923.2:n.918C>T | ||
| NM_002136.4:c.751+299C>T | NP_002127.1:n.751+299C>T | |
| NM_031157.4:c.846C>T MANE Select | NP_112420.1:p.Gly282= | |
| NR_135167.2:n.833+299C>T |