Linked Data
dbSNP Id:
rs3777404
gnomAD v2:
6-160498049-G-A
gnomAD v3:
6-160077017-G-A
gnomAD v4:
6-160077017-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160077017G>A , CM000668.2:g.160077017G>A | GRCh38 |
| NC_000006.11:g.160498049G>A , CM000668.1:g.160498049G>A | GRCh37 |
| NC_000006.10:g.160418039G>A | NCBI36 |
| NG_011785.3:g.112919G>A | |
| NG_011785.4:g.112919G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356956.6:c.5316+1021G>A MANE Select | ENSP00000349437.1:n.5316+1021G>A | |
| ENST00000650503.1:n.1926+1021G>A | ||
| ENST00000676781.1:c.*3424+1021G>A | ENSP00000504419.1:n.*3424+1021G>A | |
| ENST00000677704.1:c.*1187+1021G>A | ENSP00000503314.1:n.*1187+1021G>A | |
| ENST00000356956.5:c.5316+1021G>A | ENSP00000349437.1:n.5316+1021G>A | |
| NM_000876.2:c.5316+1021G>A | NP_000867.2:n.5316+1021G>A | |
| NM_000876.3:c.5316+1021G>A | NP_000867.2:n.5316+1021G>A | |
| NM_000876.4:c.5316+1021G>A MANE Select | NP_000867.3:n.5316+1021G>A |