Linked Data
dbSNP Id:
rs147292144
ExAC:
7:103014918 T / A
gnomAD v2:
7-103014918-T-A
gnomAD v3:
7-103374471-T-A
gnomAD v4:
7-103374471-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103374471T>A , CM000669.2:g.103374471T>A | GRCh38 |
| NC_000007.13:g.103014918T>A , CM000669.1:g.103014918T>A | GRCh37 |
| NC_000007.12:g.102802154T>A | NCBI36 |
| NG_023055.1:g.76707A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306312.8:c.2163A>T MANE Select | ENSP00000304783.3:p.Glu721Asp | |
| ENST00000306312.7:c.2163A>T | ENSP00000304783.3:p.Glu721Asp | |
| ENST00000339444.10:c.2041+2337A>T | ENSP00000342396.6:n.2041+2337A>T | |
| ENST00000354356.8:c.2169A>T | ENSP00000346325.5:p.Glu723Asp | |
| ENST00000356767.8:c.972-21545A>T | ENSP00000349210.4:n.972-21545A>T | |
| ENST00000393723.2:c.2073A>T | ENSP00000377324.1:p.Glu691Asp | |
| ENST00000393727.5:c.2169A>T | ENSP00000377328.1:p.Glu723Asp | |
| ENST00000393729.5:c.2052A>T | ENSP00000377330.1:p.Glu684Asp | |
| ENST00000393730.5:c.2067A>T | ENSP00000377331.1:p.Glu689Asp | |
| ENST00000393735.6:c.1514+14537A>T | ENSP00000377336.2:n.1514+14537A>T | |
| ENST00000423416.5:c.*575A>T | ENSP00000389018.1:n.*575A>T | |
| ENST00000432958.6:c.2067A>T | ENSP00000389733.2:p.Glu689Asp | |
| ENST00000445809.5:c.*1146A>T | ENSP00000396833.1:n.*1146A>T | |
| ENST00000454864.5:c.*467A>T | ENSP00000416502.1:n.*467A>T | |
| ENST00000456463.5:c.*1364A>T | ENSP00000395568.1:n.*1364A>T | |
| NM_001167962.1:c.2067A>T | NP_001161434.1:p.Glu689Asp | |
| NM_198999.2:c.2163A>T | NP_945350.1:p.Glu721Asp | |
| NM_206883.2:c.2041+2337A>T | NP_996766.1:n.2041+2337A>T | |
| NM_206884.2:c.1514+14537A>T | NP_996767.1:n.1514+14537A>T | |
| NM_206885.2:c.972-21545A>T | NP_996768.1:n.972-21545A>T | |
| NR_120441.1:n.2179A>T | ||
| NR_120442.1:n.2075A>T | ||
| NR_120443.1:n.1993A>T | ||
| XM_011516170.1:c.2163A>T | XP_011514472.1:p.Glu721Asp | |
| NM_001321787.1:c.1945+2337A>T | NP_001308716.1:n.1945+2337A>T | |
| NR_135801.1:n.2181A>T | ||
| NR_135802.1:n.2137+2337A>T | ||
| XM_011516170.3:c.2163A>T | XP_011514472.1:p.Glu721Asp | |
| XR_001744725.2:n.2355A>T | ||
| XR_001744726.1:n.3023+2337A>T | ||
| XR_001744727.2:n.2259A>T | ||
| NM_001321787.2:c.1945+2337A>T | NP_001308716.1:n.1945+2337A>T | |
| NM_198999.3:c.2163A>T MANE Select | NP_945350.1:p.Glu721Asp | |
| NM_206883.3:c.2041+2337A>T | NP_996766.1:n.2041+2337A>T | |
| NM_206884.3:c.1514+14537A>T | NP_996767.1:n.1514+14537A>T | |
| NM_206885.3:c.972-21545A>T | NP_996768.1:n.972-21545A>T | |
| NR_135802.2:n.2167+2337A>T | ||
| NM_001167962.2:c.2067A>T | NP_001161434.1:p.Glu689Asp | |
| NR_135801.2:n.2211A>T |