Linked Data
ClinVar Variation Id:
2102068
ClinVar RCV Id:
RCV003017224
dbSNP Id:
rs782542236
ExAC:
11:118373859 A / G
gnomAD v2:
11-118373859-A-G
gnomAD v4:
11-118503144-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118503144A>G , CM000673.2:g.118503144A>G | GRCh38 |
| NC_000011.9:g.118373859A>G , CM000673.1:g.118373859A>G | GRCh37 |
| NC_000011.8:g.117879069A>G | NCBI36 |
| NG_027813.1:g.71655A>G , LRG_613:g.71655A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.7351A>G | ENSP00000432391.3:p.Asn2451Asp | |
| ENST00000710560.1:c.7342A>G | ENSP00000518343.1:p.Asn2448Asp | |
| ENST00000649878.2:c.1291A>G | ENSP00000497891.2:p.Asn431Asp | |
| ENST00000685397.1:c.1291A>G | ENSP00000509586.1:p.Asn431Asp | |
| ENST00000686370.1:c.1291A>G | ENSP00000509179.1:p.Asn431Asp | |
| ENST00000689424.1:c.1549A>G | ENSP00000509852.1:p.Asn517Asp | |
| ENST00000691053.1:c.7324A>G | ENSP00000509168.1:p.Asn2442Asp | |
| ENST00000389506.10:c.7243A>G | ENSP00000374157.5:p.Asn2415Asp | |
| ENST00000528278.2:n.6594A>G | ||
| ENST00000534358.8:c.7252A>G MANE Select | ENSP00000436786.2:p.Asn2418Asp | |
| ENST00000649699.1:c.7129A>G | ENSP00000496927.1:p.Asn2377Asp | |
| ENST00000389506.9:c.7243A>G | ENSP00000374157.5:p.Asn2415Asp | |
| ENST00000528278.1:n.1379A>G | ||
| ENST00000534358.5:c.7252A>G | ENSP00000436786.1:p.Asn2418Asp | |
| NM_001197104.1:c.7252A>G , LRG_613t1:c.7252A>G | NP_001184033.1:p.Asn2418Asp | |
| NM_005933.3:c.7243A>G | NP_005924.2:p.Asn2415Asp | |
| XM_006718839.2:c.4735A>G | XP_006718902.2:p.Asn1579Asp | |
| XM_011542829.1:c.7351A>G | XP_011541131.1:p.Asn2451Asp | |
| XM_011542830.1:c.7348A>G | XP_011541132.1:p.Asn2450Asp | |
| XM_011542831.1:c.7342A>G | XP_011541133.1:p.Asn2448Asp | |
| XM_011542832.1:c.5158A>G | XP_011541134.1:p.Asn1720Asp | |
| XM_011542833.1:c.4834A>G | XP_011541135.1:p.Asn1612Asp | |
| XM_006718839.3:c.4735A>G | XP_006718902.2:p.Asn1579Asp | |
| XM_011542829.2:c.7351A>G | XP_011541131.1:p.Asn2451Asp | |
| XM_011542830.2:c.7348A>G | XP_011541132.1:p.Asn2450Asp | |
| XM_011542831.2:c.7342A>G | XP_011541133.1:p.Asn2448Asp | |
| XM_011542833.2:c.4834A>G | XP_011541135.1:p.Asn1612Asp | |
| NM_001197104.2:c.7252A>G MANE Select | NP_001184033.1:p.Asn2418Asp | |
| NM_005933.4:c.7243A>G | NP_005924.2:p.Asn2415Asp |