Linked Data
ClinVar Variation Id:
5559
ClinVar RCV Id:
RCV000005898
dbSNP Id:
rs28937871
gnomAD v2:
14-75514863-T-C
gnomAD v4:
14-75048160-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75048160T>C , CM000676.2:g.75048160T>C | GRCh38 |
| NC_000014.8:g.75514863T>C , CM000676.1:g.75514863T>C | GRCh37 |
| NC_000014.7:g.74584616T>C | NCBI36 |
| NG_008649.1:g.8373A>G , LRG_217:g.8373A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355774.7:c.1496A>G MANE Select | ENSP00000348020.2:p.Asn499Ser | |
| ENST00000355774.6:c.1496A>G | ENSP00000348020.2:p.Asn499Ser | |
| ENST00000380968.6:c.1496A>G | ENSP00000370355.3:p.Asn499Ser | |
| ENST00000556257.5:c.1496A>G | ENSP00000451540.1:p.Asn499Ser | |
| ENST00000556740.5:c.1496A>G | ENSP00000452316.1:p.Asn499Ser | |
| NM_001040108.1:c.1496A>G , LRG_217t1:c.1496A>G | NP_001035197.1:p.Asn499Ser | |
| NM_014381.2:c.1496A>G | NP_055196.2:p.Asn499Ser | |
| XM_005267531.3:c.1496A>G | XP_005267588.1:p.Asn499Ser | |
| XM_005267532.3:c.1496A>G | XP_005267589.1:p.Asn499Ser | |
| XM_005267533.3:c.1496A>G | XP_005267590.1:p.Asn499Ser | |
| XM_005267534.2:c.1496A>G | XP_005267591.1:p.Asn499Ser | |
| XM_006720116.2:c.1496A>G | XP_006720179.1:p.Asn499Ser | |
| XM_011536646.1:c.1496A>G | XP_011534948.1:p.Asn499Ser | |
| XM_011536647.1:c.1496A>G | XP_011534949.1:p.Asn499Ser | |
| XM_011536648.1:c.1496A>G | XP_011534950.1:p.Asn499Ser | |
| XR_245681.2:n.1712A>G | ||
| XM_005267532.5:c.1496A>G | XP_005267589.1:p.Asn499Ser | |
| XM_005267533.5:c.1496A>G | XP_005267590.1:p.Asn499Ser | |
| XM_005267534.3:c.1496A>G | XP_005267591.1:p.Asn499Ser | |
| XM_006720116.4:c.1496A>G | XP_006720179.1:p.Asn499Ser | |
| XM_011536646.3:c.1496A>G | XP_011534948.1:p.Asn499Ser | |
| XM_017021219.2:c.1496A>G | XP_016876708.1:p.Asn499Ser | |
| XM_024449538.1:c.1496A>G | XP_024305306.1:p.Asn499Ser | |
| XR_001750225.2:n.1659A>G | ||
| XR_001750227.2:n.1659A>G | ||
| XR_001750228.2:n.1659A>G | ||
| XR_001750229.2:n.1659A>G | ||
| XR_001750230.2:n.1659A>G | ||
| XR_002957544.1:n.1659A>G | ||
| XR_245681.4:n.1659A>G | ||
| NM_001040108.2:c.1496A>G MANE Select | NP_001035197.1:p.Asn499Ser | |
| NM_014381.3:c.1496A>G | NP_055196.2:p.Asn499Ser |