Linked Data
dbSNP Id:
rs778864311
ExAC:
19:6686123 G / A
gnomAD v2:
19-6686123-G-A
gnomAD v4:
19-6686112-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6686112G>A , CM000681.2:g.6686112G>A | GRCh38 |
| NC_000019.9:g.6686123G>A , CM000681.1:g.6686123G>A | GRCh37 |
| NC_000019.8:g.6637123G>A | NCBI36 |
| NG_009557.1:g.39540C>T , LRG_27:g.39540C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2158+12C>T | ||
| ENST00000695653.1:c.1719+12C>T | ENSP00000512084.1:n.1719+12C>T | |
| ENST00000695654.1:c.2835+12C>T | ENSP00000512085.1:n.2835+12C>T | |
| ENST00000695692.1:n.3186C>T | ||
| ENST00000245907.11:c.3810+12C>T MANE Select | ENSP00000245907.4:n.3810+12C>T | |
| ENST00000245907.10:c.3810+12C>T | ENSP00000245907.4:n.3810+12C>T | |
| ENST00000596238.1:n.253+12C>T | ||
| ENST00000601008.1:c.241+634C>T | ENSP00000471384.1:n.241+634C>T | |
| NM_000064.3:c.3810+12C>T | NP_000055.2:n.3810+12C>T | |
| NM_000064.4:c.3810+12C>T MANE Select | NP_000055.2:n.3810+12C>T |