Linked Data
ClinVar Variation Id:
135607
ClinVar RCV Id:
RCV000122456
dbSNP Id:
rs483353039
gnomAD v4:
12-54283961-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54283961A>G , CM000674.2:g.54283961A>G | GRCh38 |
| NC_000012.11:g.54677745A>G , CM000674.1:g.54677745A>G | GRCh37 |
| NC_000012.10:g.52964012A>G | NCBI36 |
| NG_033830.1:g.8258A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340913.11:c.1057A>G MANE Select | ENSP00000341826.7:p.Asn353Asp | |
| ENST00000550482.2:c.901A>G | ENSP00000446486.2:p.Asn301Asp | |
| ENST00000676472.1:c.189A>G | ||
| ENST00000676572.1:c.283A>G | ||
| ENST00000676707.1:c.204A>G | ||
| ENST00000676725.1:n.1231A>G | ||
| ENST00000676794.1:c.76A>G | ENSP00000504819.1:p.Asn26Asp | |
| ENST00000676853.1:c.285A>G | ||
| ENST00000676886.1:c.85-297A>G | ||
| ENST00000676951.1:c.306A>G | ||
| ENST00000677191.1:c.397A>G | ||
| ENST00000677210.1:c.1057A>G | ENSP00000503610.1:p.Asn353Asp | |
| ENST00000677220.1:c.132+2459A>G | ENSP00000502987.1:n.132+2459A>G | |
| ENST00000677224.1:c.159A>G | ||
| ENST00000677249.1:c.898A>G | ENSP00000503649.1:p.Asn300Asp | |
| ENST00000677279.1:c.156A>G | ||
| ENST00000677375.1:c.901A>G | ENSP00000503651.1:p.Asn301Asp | |
| ENST00000677385.1:c.*1243A>G | ENSP00000502985.1:n.*1243A>G | |
| ENST00000677518.1:c.120A>G | ||
| ENST00000677539.1:c.439A>G | ||
| ENST00000677636.1:c.243A>G | ||
| ENST00000677778.1:c.75+1087A>G | ||
| ENST00000677840.1:c.150A>G | ||
| ENST00000677847.1:c.90A>G | ||
| ENST00000677945.1:c.228A>G | ||
| ENST00000678077.1:c.766A>G | ENSP00000504814.1:p.Asn256Asp | |
| ENST00000678212.1:c.245A>G | ||
| ENST00000678279.1:n.136A>G | ||
| ENST00000678365.1:n.49-2701A>G | ||
| ENST00000678412.1:c.157-297A>G | ||
| ENST00000678418.1:n.1253A>G | ||
| ENST00000678424.1:c.282A>G | ||
| ENST00000678448.1:c.249A>G | ENSP00000503619.1:n.249A>G | |
| ENST00000678456.1:c.76-297A>G | ||
| ENST00000678513.1:c.177A>G | ||
| ENST00000678581.1:c.285A>G | ||
| ENST00000678597.1:c.174A>G | ||
| ENST00000678611.1:c.291A>G | ||
| ENST00000678873.1:c.225A>G | ||
| ENST00000678876.1:c.243A>G | ||
| ENST00000678934.1:c.204A>G | ||
| ENST00000678970.1:c.226A>G | ||
| ENST00000679026.1:c.150A>G | ||
| ENST00000679063.1:c.225A>G | ||
| ENST00000679079.1:c.157-588A>G | ||
| ENST00000679228.1:n.1252A>G | ||
| ENST00000679273.1:c.237A>G | ENSP00000504626.1:n.237A>G | |
| ENST00000679344.1:c.258A>G | ||
| ENST00000330752.12:c.862A>G | ENSP00000333504.8:p.Asn288Asp | |
| ENST00000340913.10:c.1057A>G | ENSP00000341826.6:p.Asn353Asp | |
| ENST00000546500.5:c.901A>G | ENSP00000448617.1:p.Asn301Asp | |
| ENST00000547276.5:c.742A>G | ENSP00000447260.1:p.Asn248Asp | |
| ENST00000547566.5:c.901A>G | ENSP00000449913.1:p.Asn301Asp | |
| ENST00000550482.1:c.514A>G | ENSP00000446486.1:p.Asn172Asp | |
| ENST00000551679.1:n.239A>G | ||
| NM_002136.2:c.901A>G | NP_002127.1:p.Asn301Asp | |
| NM_031157.2:c.1057A>G | NP_112420.1:p.Asn353Asp | |
| XM_005268826.1:c.1057A>G | XP_005268883.1:p.Asn353Asp | |
| XR_245923.1:n.1169A>G | ||
| XR_245924.1:n.1013A>G | ||
| NM_002136.3:c.901A>G | NP_002127.1:p.Asn301Asp | |
| NM_031157.3:c.1057A>G | NP_112420.1:p.Asn353Asp | |
| NR_135167.1:n.1019A>G | ||
| XM_005268826.2:c.1057A>G | XP_005268883.1:p.Asn353Asp | |
| XR_245923.2:n.1129A>G | ||
| NM_002136.4:c.901A>G | NP_002127.1:p.Asn301Asp | |
| NM_031157.4:c.1057A>G MANE Select | NP_112420.1:p.Asn353Asp | |
| NR_135167.2:n.983A>G |