Linked Data
dbSNP Id:
rs72653801
ExAC:
16:16263667 G / T
gnomAD v2:
16-16263667-G-T
gnomAD v3:
16-16169810-G-T
gnomAD v4:
16-16169810-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169810G>T , CM000678.2:g.16169810G>T | GRCh38 |
| NC_000016.9:g.16263667G>T , CM000678.1:g.16263667G>T | GRCh37 |
| NC_000016.8:g.16171168G>T | NCBI36 |
| NG_007558.2:g.58662C>A | |
| NG_007558.3:g.58808C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2831C>A | ENSP00000483331.2:p.Thr944Asn | |
| ENST00000205557.12:c.2831C>A MANE Select | ENSP00000205557.7:p.Thr944Asn | |
| ENST00000205557.11:c.2831C>A | ENSP00000205557.7:p.Thr944Asn | |
| ENST00000456970.6:c.2656C>A | ENSP00000405002.2:n.2656C>A | |
| ENST00000622290.4:c.*40C>A | ENSP00000483331.1:n.*40C>A | |
| NM_001171.5:c.2831C>A | NP_001162.4:p.Thr944Asn | |
| XM_011522479.1:c.2798C>A | XP_011520781.1:p.Thr933Asn | |
| XM_011522480.1:c.2489C>A | XP_011520782.1:p.Thr830Asn | |
| XM_011522481.1:c.2489C>A | XP_011520783.1:p.Thr830Asn | |
| XR_932836.1:n.3066C>A | ||
| XR_932837.1:n.3067C>A | ||
| XR_932838.1:n.3067C>A | ||
| NM_001351800.1:c.2489C>A | NP_001338729.1:p.Thr830Asn | |
| NR_147784.1:n.2693C>A | ||
| XM_011522479.2:c.2798C>A | XP_011520781.1:p.Thr933Asn | |
| XM_011522481.3:c.2489C>A | XP_011520783.1:p.Thr830Asn | |
| XM_017023212.1:c.2663C>A | XP_016878701.1:p.Thr888Asn | |
| XM_017023214.1:c.2831C>A | XP_016878703.1:p.Thr944Asn | |
| XM_024450261.1:c.2867C>A | XP_024306029.1:p.Thr956Asn | |
| XR_932836.2:n.3012C>A | ||
| XR_932837.3:n.3012C>A | ||
| XR_932838.3:n.3012C>A | ||
| NM_001171.6:c.2831C>A MANE Select | NP_001162.5:p.Thr944Asn |