Linked Data
ClinVar Variation Id:
448643
ClinVar RCV Id:
RCV000518128
dbSNP Id:
rs1553267067
gnomAD v4:
1-210021084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210021084G>A , CM000663.2:g.210021084G>A | GRCh38 |
| NC_000001.10:g.210194429G>A , CM000663.1:g.210194429G>A | GRCh37 |
| NC_000001.9:g.208261052G>A | NCBI36 |
| NG_031962.1:g.87911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367019.6:c.272G>A MANE Select | ENSP00000355986.1:p.Ser91Asn | |
| ENST00000699295.1:c.1142G>A | ENSP00000514275.1:p.Ser381Asn | |
| ENST00000637265.1:c.1142G>A | ENSP00000489897.1:p.Ser381Asn | |
| ENST00000637945.1:c.*132G>A | ENSP00000489671.1:n.*132G>A | |
| ENST00000367015.5:c.158G>A | ENSP00000355982.1:p.Ser53Asn | |
| ENST00000367019.5:c.272G>A | ENSP00000355986.1:p.Ser91Asn | |
| ENST00000399639.6:c.158G>A | ENSP00000445837.2:p.Ser53Asn | |
| ENST00000472886.5:c.272G>A | ENSP00000418901.1:p.Ser91Asn | |
| ENST00000534859.2:c.39G>A | ||
| ENST00000537238.5:c.158G>A | ENSP00000437423.1:p.Ser53Asn | |
| ENST00000629778.2:c.407G>A | ENSP00000486230.1:p.Ser136Asn | |
| NM_001146261.2:c.407G>A | NP_001139733.1:p.Ser136Asn | |
| NM_001146262.2:c.272G>A | NP_001139734.1:p.Ser91Asn | |
| NM_001146264.2:c.407G>A | NP_001139736.1:p.Ser136Asn | |
| NM_001256006.1:c.158G>A | NP_001242935.1:p.Ser53Asn | |
| NM_153262.3:c.272G>A | NP_694994.2:p.Ser91Asn | |
| NR_027459.2:n.568G>A | ||
| XM_006711262.2:c.1142G>A | XP_006711325.1:p.Ser381Asn | |
| XM_011509388.1:c.1142G>A | XP_011507690.1:p.Ser381Asn | |
| XM_011509389.1:c.1142G>A | XP_011507691.1:p.Ser381Asn | |
| XM_011509390.1:c.1142G>A | XP_011507692.1:p.Ser381Asn | |
| XM_006711262.3:c.1142G>A | XP_006711325.1:p.Ser381Asn | |
| XM_017000931.1:c.1142G>A | XP_016856420.1:p.Ser381Asn | |
| XM_017000932.2:c.158G>A | XP_016856421.1:p.Ser53Asn | |
| XM_017000933.2:c.158G>A | XP_016856422.1:p.Ser53Asn | |
| XM_017000934.2:c.158G>A | XP_016856423.1:p.Ser53Asn | |
| XM_017000935.2:c.-165G>A | XP_016856424.1:n.-165G>A | |
| NM_001146262.3:c.272G>A | NP_001139734.1:p.Ser91Asn | |
| NM_001146264.3:c.407G>A | NP_001139736.1:p.Ser136Asn | |
| NM_153262.4:c.272G>A | NP_694994.2:p.Ser91Asn | |
| NR_027459.3:n.525G>A | ||
| NM_001146261.3:c.407G>A | NP_001139733.1:p.Ser136Asn | |
| NM_001256006.2:c.158G>A | NP_001242935.1:p.Ser53Asn | |
| NM_001146261.4:c.407G>A | NP_001139733.1:p.Ser136Asn | |
| NM_001146262.4:c.272G>A MANE Select | NP_001139734.1:p.Ser91Asn | |
| NM_001146264.4:c.407G>A | NP_001139736.1:p.Ser136Asn | |
| NM_001256006.3:c.158G>A | NP_001242935.1:p.Ser53Asn | |
| NM_001397544.1:c.1142G>A | NP_001384473.1:p.Ser381Asn | |
| NM_001397545.1:c.1142G>A | NP_001384474.1:p.Ser381Asn | |
| NM_153262.5:c.272G>A | NP_694994.2:p.Ser91Asn |