Linked Data
ClinVar Variation Id:
102959
ClinVar RCV Id:
RCV000089219
dbSNP Id:
rs199475946
ExAC:
16:3593426 C / T
gnomAD v2:
16-3593426-C-T
gnomAD v3:
16-3543426-C-T
gnomAD v4:
16-3543426-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3543426C>T , CM000678.2:g.3543426C>T | GRCh38 |
| NC_000016.9:g.3593426C>T , CM000678.1:g.3593426C>T | GRCh37 |
| NC_000016.8:g.3533427C>T | NCBI36 |
| NG_033123.1:g.38966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359128.10:c.2938G>A MANE Select | ENSP00000352039.6:p.Asp980Asn | |
| ENST00000324659.12:c.3079G>A | ENSP00000323897.9:p.Asp1027Asn | |
| ENST00000359128.9:c.2938G>A | ENSP00000352039.6:p.Asp980Asn | |
| ENST00000448023.6:c.2938G>A | ENSP00000414415.3:p.Asp980Asn | |
| ENST00000615877.4:c.*788G>A | ENSP00000482989.1:n.*788G>A | |
| NM_178844.3:c.2938G>A | NP_849172.2:p.Asp980Asn | |
| NR_075083.2:n.3559G>A | ||
| XM_011522416.1:c.2938G>A | XP_011520718.1:p.Asp980Asn | |
| XM_011522417.1:c.2938G>A | XP_011520719.1:p.Asp980Asn | |
| XM_011522418.1:c.2938G>A | XP_011520720.1:p.Asp980Asn | |
| XM_011522419.1:c.2938G>A | XP_011520721.1:p.Asp980Asn | |
| XM_011522420.1:c.2938G>A | XP_011520722.1:p.Asp980Asn | |
| XM_011522421.1:c.2938G>A | XP_011520723.1:p.Asp980Asn | |
| XM_011522422.1:c.2938G>A | XP_011520724.1:p.Asp980Asn | |
| XR_243342.2:n.386+757C>T | ||
| XR_933023.1:n.386+757C>T | ||
| XR_933024.1:n.351+757C>T | ||
| XR_933025.1:n.296+757C>T | ||
| XM_017023027.2:c.2965G>A | XP_016878516.1:p.Asp989Asn | |
| XM_017023028.2:c.2965G>A | XP_016878517.1:p.Asp989Asn | |
| XM_017023029.2:c.2965G>A | XP_016878518.1:p.Asp989Asn | |
| XM_017023030.2:c.2965G>A | XP_016878519.1:p.Asp989Asn | |
| XM_017023031.2:c.2965G>A | XP_016878520.1:p.Asp989Asn | |
| XM_017023033.2:c.2965G>A | XP_016878522.1:p.Asp989Asn | |
| XM_017023034.2:c.2965G>A | XP_016878523.1:p.Asp989Asn | |
| XM_017023035.2:c.2965G>A | XP_016878524.1:p.Asp989Asn | |
| XM_017023036.2:c.2965G>A | XP_016878525.1:p.Asp989Asn | |
| XM_017023037.2:c.2860G>A | XP_016878526.1:p.Asp954Asn | |
| XM_017023038.2:c.2833G>A | XP_016878527.1:p.Asp945Asn | |
| NM_178844.4:c.2938G>A MANE Select | NP_849172.2:p.Asp980Asn | |
| NR_075083.3:n.3558G>A |