Linked Data
dbSNP Id:
rs766045873
ExAC:
17:73520430 T / A
gnomAD v2:
17-73520430-T-A
gnomAD v3:
17-75524349-T-A
gnomAD v4:
17-75524349-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524349T>A , CM000679.2:g.75524349T>A | GRCh38 |
| NC_000017.10:g.73520430T>A , CM000679.1:g.73520430T>A | GRCh37 |
| NC_000017.9:g.71032025T>A | NCBI36 |
| NG_013041.1:g.12822T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1518T>A MANE Select | ENSP00000327487.6:p.Asp506Glu | |
| ENST00000434205.8:c.1215T>A | ENSP00000406559.4:p.Asp405Glu | |
| ENST00000545228.3:c.*17T>A | ENSP00000438169.3:n.*17T>A | |
| ENST00000577197.2:n.716T>A | ||
| ENST00000579449.2:n.2258T>A | ||
| ENST00000580013.6:n.2662T>A | ||
| ENST00000679370.1:n.3040T>A | ||
| ENST00000679429.1:c.*976T>A | ENSP00000505403.1:n.*976T>A | |
| ENST00000679443.1:n.1587T>A | ||
| ENST00000679782.1:c.*217T>A | ENSP00000505995.1:n.*217T>A | |
| ENST00000679919.1:n.1789T>A | ||
| ENST00000679928.1:c.*2070T>A | ENSP00000506071.1:n.*2070T>A | |
| ENST00000680528.1:n.2484T>A | ||
| ENST00000680999.1:c.1731T>A | ENSP00000504984.1:p.Asp577Glu | |
| ENST00000681282.1:c.*1705T>A | ENSP00000506339.1:n.*1705T>A | |
| ENST00000333213.10:c.1518T>A | ENSP00000327487.6:p.Asp506Glu | |
| ENST00000545228.2:c.795T>A | ||
| ENST00000577197.1:n.266T>A | ||
| ENST00000579449.1:n.715T>A | ||
| NM_207346.2:c.1518T>A | NP_997229.2:p.Asp506Glu | |
| XM_005257229.2:c.*17T>A | XP_005257286.1:n.*17T>A | |
| XM_006721821.2:c.*17T>A | XP_006721884.1:n.*17T>A | |
| XM_011524616.1:c.*17T>A | XP_011522918.1:n.*17T>A | |
| XM_011524617.1:c.*100T>A | XP_011522919.1:n.*100T>A | |
| XM_011524618.1:c.1401T>A | XP_011522920.1:p.Asp467Glu | |
| XR_243646.2:n.1750T>A | ||
| XM_005257229.4:c.*17T>A | XP_005257286.1:n.*17T>A | |
| XR_001753015.1:n.49A>T | ||
| XR_001753016.1:n.50A>T | ||
| XR_243646.4:n.1756T>A | ||
| NM_207346.3:c.1518T>A MANE Select | NP_997229.2:p.Asp506Glu |