Linked Data
dbSNP Id:
rs911948396
ExAC:
19:54393290 G / C
gnomAD v2:
19-54393290-G-C
gnomAD v4:
19-53890036-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53890036G>C , CM000681.2:g.53890036G>C | GRCh38 |
| NC_000019.9:g.54393290G>C , CM000681.1:g.54393290G>C | GRCh37 |
| NC_000019.8:g.59085102G>C | NCBI36 |
| NG_009114.1:g.12824G>C , LRG_669:g.12824G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.529+19G>C | ENSP00000507230.1:n.529+19G>C | |
| ENST00000682268.1:n.827+19G>C | ||
| ENST00000682902.1:n.831+19G>C | ||
| ENST00000683513.1:c.529+19G>C | ENSP00000506809.1:n.529+19G>C | |
| ENST00000263431.4:c.529+19G>C MANE Select | ENSP00000263431.3:n.529+19G>C | |
| ENST00000263431.3:c.529+19G>C | ENSP00000263431.3:n.529+19G>C | |
| ENST00000474397.5:c.145+19G>C | ENSP00000471271.1:n.145+19G>C | |
| NM_001316329.1:c.529+19G>C | NP_001303258.1:n.529+19G>C | |
| NM_002739.3:c.529+19G>C , LRG_669t1:c.529+19G>C | NP_002730.1:n.529+19G>C | |
| NM_002739.4:c.529+19G>C | NP_002730.1:n.529+19G>C | |
| NM_002739.5:c.529+19G>C MANE Select | NP_002730.1:n.529+19G>C | |
| NM_001316329.2:c.529+19G>C | NP_001303258.1:n.529+19G>C |