Linked Data
ClinVar Variation Id:
135599
ClinVar RCV Id:
RCV000122448
dbSNP Id:
rs3207617
gnomAD v4:
12-54283899-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54283899A>G , CM000674.2:g.54283899A>G | GRCh38 |
| NC_000012.11:g.54677683A>G , CM000674.1:g.54677683A>G | GRCh37 |
| NC_000012.10:g.52963950A>G | NCBI36 |
| NG_033830.1:g.8196A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340913.11:c.995A>G MANE Select | ENSP00000341826.7:p.Asn332Ser | |
| ENST00000550482.2:c.839A>G | ENSP00000446486.2:p.Asn280Ser | |
| ENST00000676472.1:c.127A>G | ||
| ENST00000676572.1:c.221A>G | ||
| ENST00000676707.1:c.142A>G | ||
| ENST00000676725.1:n.1169A>G | ||
| ENST00000676794.1:c.14A>G | ENSP00000504819.1:p.Asn5Ser | |
| ENST00000676853.1:c.223A>G | ||
| ENST00000676886.1:c.85-359A>G | ||
| ENST00000676951.1:c.244A>G | ||
| ENST00000677191.1:c.335A>G | ||
| ENST00000677210.1:c.995A>G | ENSP00000503610.1:p.Asn332Ser | |
| ENST00000677220.1:c.132+2397A>G | ENSP00000502987.1:n.132+2397A>G | |
| ENST00000677224.1:c.97A>G | ||
| ENST00000677249.1:c.836A>G | ENSP00000503649.1:p.Asn279Ser | |
| ENST00000677279.1:c.94A>G | ||
| ENST00000677375.1:c.839A>G | ENSP00000503651.1:p.Asn280Ser | |
| ENST00000677385.1:c.*1181A>G | ENSP00000502985.1:n.*1181A>G | |
| ENST00000677518.1:c.88A>G | ||
| ENST00000677539.1:c.377A>G | ||
| ENST00000677636.1:c.181A>G | ||
| ENST00000677778.1:c.75+1025A>G | ||
| ENST00000677840.1:c.88A>G | ||
| ENST00000677847.1:c.28A>G | ||
| ENST00000677945.1:c.166A>G | ||
| ENST00000678077.1:c.704A>G | ENSP00000504814.1:p.Asn235Ser | |
| ENST00000678212.1:c.183A>G | ||
| ENST00000678279.1:n.74A>G | ||
| ENST00000678365.1:n.49-2763A>G | ||
| ENST00000678412.1:c.157-359A>G | ||
| ENST00000678418.1:n.1191A>G | ||
| ENST00000678424.1:c.220A>G | ||
| ENST00000678448.1:c.187A>G | ENSP00000503619.1:n.187A>G | |
| ENST00000678456.1:c.76-359A>G | ||
| ENST00000678513.1:c.115A>G | ||
| ENST00000678581.1:c.223A>G | ||
| ENST00000678597.1:c.112A>G | ||
| ENST00000678611.1:c.229A>G | ||
| ENST00000678873.1:c.163A>G | ||
| ENST00000678876.1:c.181A>G | ||
| ENST00000678934.1:c.142A>G | ||
| ENST00000678970.1:c.164A>G | ||
| ENST00000679026.1:c.88A>G | ||
| ENST00000679063.1:c.163A>G | ||
| ENST00000679079.1:c.157-650A>G | ||
| ENST00000679228.1:n.1190A>G | ||
| ENST00000679273.1:c.175A>G | ENSP00000504626.1:n.175A>G | |
| ENST00000679344.1:c.196A>G | ||
| ENST00000330752.12:c.800A>G | ENSP00000333504.8:p.Asn267Ser | |
| ENST00000340913.10:c.995A>G | ENSP00000341826.6:p.Asn332Ser | |
| ENST00000546500.5:c.839A>G | ENSP00000448617.1:p.Asn280Ser | |
| ENST00000547276.5:c.680A>G | ENSP00000447260.1:p.Asn227Ser | |
| ENST00000547566.5:c.839A>G | ENSP00000449913.1:p.Asn280Ser | |
| ENST00000550482.1:c.452A>G | ENSP00000446486.1:p.Asn151Ser | |
| ENST00000551679.1:n.177A>G | ||
| NM_002136.2:c.839A>G | NP_002127.1:p.Asn280Ser | |
| NM_031157.2:c.995A>G | NP_112420.1:p.Asn332Ser | |
| XM_005268826.1:c.995A>G | XP_005268883.1:p.Asn332Ser | |
| XR_245923.1:n.1107A>G | ||
| XR_245924.1:n.951A>G | ||
| NM_002136.3:c.839A>G | NP_002127.1:p.Asn280Ser | |
| NM_031157.3:c.995A>G | NP_112420.1:p.Asn332Ser | |
| NR_135167.1:n.957A>G | ||
| XM_005268826.2:c.995A>G | XP_005268883.1:p.Asn332Ser | |
| XR_245923.2:n.1067A>G | ||
| NM_002136.4:c.839A>G | NP_002127.1:p.Asn280Ser | |
| NM_031157.4:c.995A>G MANE Select | NP_112420.1:p.Asn332Ser | |
| NR_135167.2:n.921A>G |