Linked Data
ClinVar Variation Id:
2405513
ClinVar RCV Id:
RCV002789266
dbSNP Id:
rs2151329614
gnomAD v3:
16-3736725-C-G
gnomAD v4:
16-3736725-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736725C>G , CM000678.2:g.3736725C>G | GRCh38 |
| NC_000016.9:g.3786726C>G , CM000678.1:g.3786726C>G | GRCh37 |
| NC_000016.8:g.3726727C>G | NCBI36 |
| NG_009873.1:g.148396G>C | |
| NG_009873.2:g.148989G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4485G>C MANE Select | ENSP00000262367.5:p.Lys1495Asn | |
| ENST00000262367.9:c.4485G>C | ENSP00000262367.5:p.Lys1495Asn | |
| ENST00000382070.7:c.4371G>C | ENSP00000371502.3:p.Lys1457Asn | |
| ENST00000570939.2:c.3120G>C | ENSP00000461002.2:p.Lys1040Asn | |
| ENST00000571763.5:n.275G>C | ||
| ENST00000574740.1:n.306G>C | ||
| ENST00000576720.1:n.3308G>C | ||
| NM_001079846.1:c.4371G>C | NP_001073315.1:p.Lys1457Asn | |
| NM_004380.2:c.4485G>C | NP_004371.2:p.Lys1495Asn | |
| XM_005255124.3:c.4440G>C | XP_005255181.1:p.Lys1480Asn | |
| XM_005255125.3:c.4068G>C | XP_005255182.1:p.Lys1356Asn | |
| XM_006720848.2:c.4224G>C | XP_006720911.1:p.Lys1408Asn | |
| XM_011522380.1:c.4431G>C | XP_011520682.1:p.Lys1477Asn | |
| XM_011522381.1:c.3732G>C | XP_011520683.1:p.Lys1244Asn | |
| XM_005255124.4:c.4440G>C | XP_005255181.1:p.Lys1480Asn | |
| XM_005255125.4:c.4068G>C | XP_005255182.1:p.Lys1356Asn | |
| XM_006720848.3:c.4224G>C | XP_006720911.1:p.Lys1408Asn | |
| XM_011522381.2:c.3732G>C | XP_011520683.1:p.Lys1244Asn | |
| XM_017022944.1:c.4479G>C | XP_016878433.1:p.Lys1493Asn | |
| NM_004380.3:c.4485G>C MANE Select | NP_004371.2:p.Lys1495Asn |