Linked Data
dbSNP Id:
rs753236597
ExAC:
1:20304979 T / A
gnomAD v2:
1-20304979-T-A
gnomAD v3:
1-19978486-T-A
gnomAD v4:
1-19978486-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19978486T>A , CM000663.2:g.19978486T>A | GRCh38 |
| NC_000001.10:g.20304979T>A , CM000663.1:g.20304979T>A | GRCh37 |
| NC_000001.9:g.20177566T>A | NCBI36 |
| NG_012928.1:g.6954A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482011.3:c.79A>T MANE Select | ENSP00000504762.1:p.Arg27Ter | |
| ENST00000400520.8:c.79A>T | ENSP00000383364.3:p.Arg27Ter | |
| ENST00000482011.2:c.79A>T | ENSP00000504762.1:p.Arg27Ter | |
| ENST00000649436.1:c.-1-2A>T | ENSP00000496912.1:n.-1-2A>T | |
| ENST00000375111.7:c.79A>T | ENSP00000364252.3:p.Arg27Ter | |
| ENST00000400520.7:c.79A>T | ENSP00000383364.3:p.Arg27Ter | |
| ENST00000461140.1:n.335-2A>T | ||
| ENST00000469162.5:n.245A>T | ||
| ENST00000482011.1:n.351A>T | ||
| ENST00000491964.5:n.311A>T | ||
| ENST00000496748.1:n.429A>T | ||
| NM_000300.3:c.79A>T | NP_000291.1:p.Arg27Ter | |
| NM_001161727.1:c.79A>T | NP_001155199.1:p.Arg27Ter | |
| NM_001161728.1:c.79A>T | NP_001155200.1:p.Arg27Ter | |
| NM_001161729.1:c.79A>T | NP_001155201.1:p.Arg27Ter | |
| NM_000300.4:c.79A>T | NP_000291.1:p.Arg27Ter | |
| NM_001161727.2:c.79A>T | NP_001155199.1:p.Arg27Ter | |
| NM_001161728.2:c.79A>T | NP_001155200.1:p.Arg27Ter | |
| NM_001395463.1:c.79A>T MANE Select | NP_001382392.1:p.Arg27Ter |