Linked Data
dbSNP Id:
rs149931024
ExAC:
9:2191330 A / T
gnomAD v2:
9-2191330-A-T
gnomAD v4:
9-2191330-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2191330A>T , CM000671.2:g.2191330A>T | GRCh38 |
| NC_000009.11:g.2191330A>T , CM000671.1:g.2191330A>T | GRCh37 |
| NC_000009.10:g.2181330A>T | NCBI36 |
| NG_032162.1:g.180989A>T | |
| NG_032162.2:g.216041A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704350.1:c.4245A>T | ENSP00000515861.1:p.Lys1415Asn | |
| ENST00000704352.1:c.1797A>T | ENSP00000515863.1:p.Lys599Asn | |
| ENST00000704353.1:c.1851A>T | ENSP00000515864.1:p.Lys617Asn | |
| ENST00000704354.1:c.4589A>T | ||
| ENST00000704355.1:c.2969A>T | ||
| ENST00000349721.8:c.4659A>T MANE Select | ENSP00000265773.5:p.Lys1553Asn | |
| ENST00000357248.8:c.4605A>T | ENSP00000349788.2:p.Lys1535Asn | |
| ENST00000635739.1:n.3273A>T | ||
| ENST00000636157.1:n.2212A>T | ||
| ENST00000636367.1:c.*455A>T | ENSP00000489942.1:n.*455A>T | |
| ENST00000638139.1:n.1693A>T | ||
| ENST00000639760.2:c.712A>T | ||
| ENST00000302401.8:c.723A>T | ENSP00000305411.3:p.Lys241Asn | |
| ENST00000324954.10:c.633A>T | ENSP00000324770.6:p.Lys211Asn | |
| ENST00000349721.7:c.4659A>T | ENSP00000265773.5:p.Lys1553Asn | |
| ENST00000357248.7:c.4605A>T | ENSP00000349788.2:p.Lys1535Asn | |
| ENST00000382183.6:c.597A>T | ENSP00000371618.1:p.Lys199Asn | |
| ENST00000382185.6:c.717A>T | ENSP00000371620.2:p.Lys239Asn | |
| ENST00000382186.6:c.651A>T | ENSP00000371621.1:p.Lys217Asn | |
| ENST00000382194.6:c.4605A>T | ENSP00000371629.1:p.Lys1535Asn | |
| ENST00000382203.5:c.4659A>T | ENSP00000371638.1:p.Lys1553Asn | |
| ENST00000417599.6:c.717A>T | ENSP00000387486.2:p.Lys239Asn | |
| ENST00000450198.6:c.4431A>T | ENSP00000392081.2:p.Lys1477Asn | |
| ENST00000634760.1:c.*266A>T | ENSP00000489256.1:n.*266A>T | |
| ENST00000634781.1:c.669A>T | ENSP00000489302.1:p.Lys223Asn | |
| ENST00000634931.1:c.651A>T | ENSP00000489433.1:p.Lys217Asn | |
| ENST00000634989.1:c.*455A>T | ENSP00000489100.1:n.*455A>T | |
| ENST00000635273.1:n.501A>T | ||
| ENST00000635388.1:c.597A>T | ENSP00000489271.1:p.Lys199Asn | |
| ENST00000635590.1:c.*455A>T | ENSP00000489587.1:n.*455A>T | |
| ENST00000635659.1:c.750A>T | ||
| NM_001289396.1:c.4659A>T | NP_001276325.1:p.Lys1553Asn | |
| NM_001289397.1:c.4431A>T | NP_001276326.1:p.Lys1477Asn | |
| NM_001289398.1:c.633A>T | NP_001276327.1:p.Lys211Asn | |
| NM_001289399.1:c.717A>T | NP_001276328.1:p.Lys239Asn | |
| NM_001289400.1:c.723A>T | NP_001276329.1:p.Lys241Asn | |
| NM_003070.4:c.4659A>T | NP_003061.3:p.Lys1553Asn | |
| NM_139045.3:c.4605A>T | NP_620614.2:p.Lys1535Asn | |
| XR_001746600.1:n.1362-10308T>A | ||
| XR_001746601.1:n.1316-10308T>A | ||
| NM_003070.5:c.4659A>T MANE Select | NP_003061.3:p.Lys1553Asn | |
| NM_001289397.2:c.4431A>T | NP_001276326.1:p.Lys1477Asn | |
| NM_001289398.2:c.633A>T | NP_001276327.1:p.Lys211Asn | |
| NM_139045.4:c.4605A>T | NP_620614.2:p.Lys1535Asn |