Linked Data
dbSNP Id:
rs767272145
ExAC:
12:103234133 G / A
gnomAD v2:
12-103234133-G-A
gnomAD v3:
12-102840355-G-A
gnomAD v4:
12-102840355-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840355G>A , CM000674.2:g.102840355G>A | GRCh38 |
| NC_000012.11:g.103234133G>A , CM000674.1:g.103234133G>A | GRCh37 |
| NC_000012.10:g.101758263G>A | NCBI36 |
| NG_008690.1:g.82248C>T | |
| NG_008690.2:g.123056C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1315+45C>T MANE Select | ENSP00000448059.1:n.1315+45C>T | |
| ENST00000307000.7:c.1300+45C>T | ENSP00000303500.2:n.1300+45C>T | |
| ENST00000551114.2:n.977+45C>T | ||
| ENST00000553106.5:c.1315+45C>T | ENSP00000448059.1:n.1315+45C>T | |
| ENST00000635477.1:c.419+45C>T | ||
| ENST00000635528.1:n.830+45C>T | ||
| NM_000277.1:c.1315+45C>T | NP_000268.1:n.1315+45C>T | |
| XM_011538422.1:c.1258+45C>T | XP_011536724.1:n.1258+45C>T | |
| NM_000277.2:c.1315+45C>T | NP_000268.1:n.1315+45C>T | |
| NM_001354304.1:c.1315+45C>T | NP_001341233.1:n.1315+45C>T | |
| NM_000277.3:c.1315+45C>T MANE Select | NP_000268.1:n.1315+45C>T | |
| NM_001354304.2:c.1315+45C>T | NP_001341233.1:n.1315+45C>T |