Linked Data
ClinVar Variation Id:
201312
ClinVar RCV Id:
RCV003226238
dbSNP Id:
rs768711283
ExAC:
1:237934127 G / A
gnomAD v2:
1-237934127-G-A
gnomAD v3:
1-237770827-G-A
gnomAD v4:
1-237770827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237770827G>A , CM000663.2:g.237770827G>A | GRCh38 |
| NC_000001.10:g.237934127G>A , CM000663.1:g.237934127G>A | GRCh37 |
| NC_000001.9:g.236000750G>A | NCBI36 |
| NG_008799.2:g.733426G>A | |
| NG_008799.3:g.733644G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609119.2:c.*2589G>A | ENSP00000499659.2:n.*2589G>A | |
| ENST00000659194.3:c.11485G>A | ENSP00000499653.3:p.Asp3829Asn | |
| ENST00000660292.2:c.11518G>A | ENSP00000499787.2:p.Asp3840Asn | |
| ENST00000659194.2:c.3674G>A | ||
| ENST00000366574.7:c.11497G>A MANE Select | ENSP00000355533.2:p.Asp3833Asn | |
| ENST00000659194.1:c.3674G>A | ||
| ENST00000660292.1:c.1550G>A | ||
| ENST00000360064.7:c.11449G>A | ENSP00000353174.7:p.Asp3817Asn | |
| ENST00000366574.6:c.11497G>A | ENSP00000355533.2:p.Asp3833Asn | |
| ENST00000609119.1:n.2692G>A | ||
| NM_001035.2:c.11497G>A | NP_001026.2:p.Asp3833Asn | |
| XM_006711802.2:c.11551G>A | XP_006711865.1:p.Asp3851Asn | |
| XM_006711803.2:c.11548G>A | XP_006711866.1:p.Asp3850Asn | |
| XM_006711804.2:c.11527G>A | XP_006711867.1:p.Asp3843Asn | |
| XM_006711805.2:c.11521G>A | XP_006711868.1:p.Asp3841Asn | |
| XM_006711806.2:c.11515G>A | XP_006711869.1:p.Asp3839Asn | |
| XM_006711807.2:c.11491G>A | XP_006711870.1:p.Asp3831Asn | |
| XM_006711808.2:c.11314G>A | XP_006711871.1:p.Asp3772Asn | |
| XM_006711810.2:c.11458G>A | XP_006711873.1:p.Asp3820Asn | |
| XM_006711802.3:c.11551G>A | XP_006711865.1:p.Asp3851Asn | |
| XM_006711803.3:c.11548G>A | XP_006711866.1:p.Asp3850Asn | |
| XM_006711804.3:c.11527G>A | XP_006711867.1:p.Asp3843Asn | |
| XM_006711805.3:c.11521G>A | XP_006711868.1:p.Asp3841Asn | |
| XM_006711806.3:c.11515G>A | XP_006711869.1:p.Asp3839Asn | |
| XM_006711807.3:c.11491G>A | XP_006711870.1:p.Asp3831Asn | |
| XM_006711808.3:c.11314G>A | XP_006711871.1:p.Asp3772Asn | |
| XM_006711810.3:c.11458G>A | XP_006711873.1:p.Asp3820Asn | |
| XM_017002028.1:c.11530G>A | XP_016857517.1:p.Asp3844Asn | |
| NM_001035.3:c.11497G>A MANE Select | NP_001026.2:p.Asp3833Asn |