Linked Data
dbSNP Id:
rs759692897
ExAC:
11:72423510 T / A
gnomAD v2:
11-72423510-T-A
gnomAD v4:
11-72712465-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72712465T>A , CM000673.2:g.72712465T>A | GRCh38 |
| NC_000011.9:g.72423510T>A , CM000673.1:g.72423510T>A | GRCh37 |
| NC_000011.8:g.72101158T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.851A>T MANE Select | ENSP00000377233.3:p.Asp284Val | |
| ENST00000334211.12:c.116A>T | ENSP00000335506.8:p.Asp39Val | |
| ENST00000359373.9:c.851A>T | ENSP00000352332.5:p.Asp284Val | |
| ENST00000393605.7:c.131A>T | ENSP00000377230.3:p.Asp44Val | |
| ENST00000393609.7:c.851A>T | ENSP00000377233.3:p.Asp284Val | |
| ENST00000426523.5:c.116A>T | ENSP00000392264.1:p.Asp39Val | |
| ENST00000429686.5:c.116A>T | ENSP00000403127.1:p.Asp39Val | |
| ENST00000465814.5:n.1188A>T | ||
| NM_001040118.2:c.851A>T | NP_001035207.1:p.Asp284Val | |
| NM_001135190.1:c.116A>T | NP_001128662.1:p.Asp39Val | |
| NM_015242.4:c.116A>T | NP_056057.2:p.Asp39Val | |
| NM_001369489.1:c.116A>T | NP_001356418.1:p.Asp39Val | |
| NR_161388.1:n.833A>T | ||
| NM_001040118.3:c.851A>T MANE Select | NP_001035207.1:p.Asp284Val | |
| NM_001135190.2:c.116A>T | NP_001128662.1:p.Asp39Val | |
| NM_015242.5:c.116A>T | NP_056057.2:p.Asp39Val |