Linked Data
ClinVar Variation Id:
135593
ClinVar RCV Id:
RCV000122442
dbSNP Id:
rs483353023
gnomAD v3:
12-54283853-A-G
gnomAD v4:
12-54283853-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54283853A>G , CM000674.2:g.54283853A>G | GRCh38 |
| NC_000012.11:g.54677637A>G , CM000674.1:g.54677637A>G | GRCh37 |
| NC_000012.10:g.52963904A>G | NCBI36 |
| NG_033830.1:g.8150A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340913.11:c.949A>G MANE Select | ENSP00000341826.7:p.Asn317Asp | |
| ENST00000550482.2:c.793A>G | ENSP00000446486.2:p.Asn265Asp | |
| ENST00000676472.1:c.81A>G | ||
| ENST00000676572.1:c.175A>G | ||
| ENST00000676707.1:c.96A>G | ||
| ENST00000676725.1:n.1123A>G | ||
| ENST00000676794.1:c.-33A>G | ENSP00000504819.1:n.-33A>G | |
| ENST00000676853.1:c.177A>G | ||
| ENST00000676886.1:c.85-405A>G | ||
| ENST00000676951.1:c.198A>G | ||
| ENST00000677191.1:c.289A>G | ||
| ENST00000677210.1:c.949A>G | ENSP00000503610.1:p.Asn317Asp | |
| ENST00000677220.1:c.132+2351A>G | ENSP00000502987.1:n.132+2351A>G | |
| ENST00000677224.1:c.51A>G | ||
| ENST00000677249.1:c.790A>G | ENSP00000503649.1:p.Asn264Asp | |
| ENST00000677279.1:c.48A>G | ||
| ENST00000677375.1:c.793A>G | ENSP00000503651.1:p.Asn265Asp | |
| ENST00000677385.1:c.*1135A>G | ENSP00000502985.1:n.*1135A>G | |
| ENST00000677518.1:c.42A>G | ||
| ENST00000677539.1:c.331A>G | ||
| ENST00000677636.1:c.135A>G | ||
| ENST00000677778.1:c.75+979A>G | ||
| ENST00000677840.1:c.42A>G | ||
| ENST00000677847.1:c.24+18A>G | ||
| ENST00000677945.1:c.120A>G | ||
| ENST00000678077.1:c.658A>G | ENSP00000504814.1:p.Asn220Asp | |
| ENST00000678212.1:c.137A>G | ||
| ENST00000678279.1:n.67-39A>G | ||
| ENST00000678365.1:n.49-2809A>G | ||
| ENST00000678412.1:c.157-405A>G | ||
| ENST00000678418.1:n.1145A>G | ||
| ENST00000678424.1:c.174A>G | ||
| ENST00000678448.1:c.141A>G | ENSP00000503619.1:p.Gly47= | |
| ENST00000678456.1:c.76-405A>G | ||
| ENST00000678513.1:c.69A>G | ||
| ENST00000678581.1:c.177A>G | ||
| ENST00000678597.1:c.66A>G | ||
| ENST00000678611.1:c.183A>G | ||
| ENST00000678873.1:c.117A>G | ||
| ENST00000678876.1:c.135A>G | ||
| ENST00000678934.1:c.96A>G | ||
| ENST00000678970.1:c.157-39A>G | ||
| ENST00000679026.1:c.42A>G | ||
| ENST00000679063.1:c.117A>G | ||
| ENST00000679079.1:c.156+619A>G | ||
| ENST00000679228.1:n.1144A>G | ||
| ENST00000679273.1:c.129A>G | ENSP00000504626.1:p.Gly43= | |
| ENST00000679344.1:c.150A>G | ||
| ENST00000330752.12:c.754A>G | ENSP00000333504.8:p.Asn252Asp | |
| ENST00000340913.10:c.949A>G | ENSP00000341826.6:p.Asn317Asp | |
| ENST00000546500.5:c.793A>G | ENSP00000448617.1:p.Asn265Asp | |
| ENST00000547276.5:c.634A>G | ENSP00000447260.1:p.Asn212Asp | |
| ENST00000547566.5:c.793A>G | ENSP00000449913.1:p.Asn265Asp | |
| ENST00000547708.5:c.445A>G | ENSP00000448229.1:p.Asn149Asp | |
| ENST00000550482.1:c.406A>G | ENSP00000446486.1:p.Asn136Asp | |
| ENST00000551679.1:n.131A>G | ||
| NM_002136.2:c.793A>G | NP_002127.1:p.Asn265Asp | |
| NM_031157.2:c.949A>G | NP_112420.1:p.Asn317Asp | |
| XM_005268826.1:c.949A>G | XP_005268883.1:p.Asn317Asp | |
| XR_245923.1:n.1061A>G | ||
| XR_245924.1:n.905A>G | ||
| NM_002136.3:c.793A>G | NP_002127.1:p.Asn265Asp | |
| NM_031157.3:c.949A>G | NP_112420.1:p.Asn317Asp | |
| NR_135167.1:n.911A>G | ||
| XM_005268826.2:c.949A>G | XP_005268883.1:p.Asn317Asp | |
| XR_245923.2:n.1021A>G | ||
| NM_002136.4:c.793A>G | NP_002127.1:p.Asn265Asp | |
| NM_031157.4:c.949A>G MANE Select | NP_112420.1:p.Asn317Asp | |
| NR_135167.2:n.875A>G |