Linked Data
dbSNP Id:
rs757176708
ExAC:
19:6686112 C / T
gnomAD v2:
19-6686112-C-T
gnomAD v4:
19-6686101-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6686101C>T , CM000681.2:g.6686101C>T | GRCh38 |
| NC_000019.9:g.6686112C>T , CM000681.1:g.6686112C>T | GRCh37 |
| NC_000019.8:g.6637112C>T | NCBI36 |
| NG_009557.1:g.39551G>A , LRG_27:g.39551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2158+23G>A | ||
| ENST00000695653.1:c.1719+23G>A | ENSP00000512084.1:n.1719+23G>A | |
| ENST00000695654.1:c.2835+23G>A | ENSP00000512085.1:n.2835+23G>A | |
| ENST00000245907.11:c.3810+23G>A MANE Select | ENSP00000245907.4:n.3810+23G>A | |
| ENST00000245907.10:c.3810+23G>A | ENSP00000245907.4:n.3810+23G>A | |
| ENST00000596238.1:n.253+23G>A | ||
| ENST00000601008.1:c.241+645G>A | ENSP00000471384.1:n.241+645G>A | |
| NM_000064.3:c.3810+23G>A | NP_000055.2:n.3810+23G>A | |
| NM_000064.4:c.3810+23G>A MANE Select | NP_000055.2:n.3810+23G>A |