Linked Data
dbSNP Id:
rs16945894
gnomAD v2:
16-48180110-C-T
gnomAD v3:
16-48146199-C-T
gnomAD v4:
16-48146199-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.48146199C>T , CM000678.2:g.48146199C>T | GRCh38 |
| NC_000016.9:g.48180110C>T , CM000678.1:g.48180110C>T | GRCh37 |
| NC_000016.8:g.46737611C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311303.8:c.119+107G>A MANE Select | ENSP00000311030.4:n.119+107G>A | |
| ENST00000528693.6:c.119+107G>A | ENSP00000510388.1:n.119+107G>A | |
| ENST00000532494.6:n.465+107G>A | ||
| ENST00000311303.7:c.119+107G>A | ENSP00000311030.3:n.119+107G>A | |
| ENST00000497206.6:c.119+107G>A | ENSP00000431232.1:n.119+107G>A | |
| ENST00000527640.1:c.119+107G>A | ENSP00000436647.1:n.119+107G>A | |
| ENST00000528693.5:n.322+107G>A | ||
| ENST00000529084.5:c.119+107G>A | ENSP00000434510.1:n.119+107G>A | |
| ENST00000529504.5:c.119+107G>A | ENSP00000433333.1:n.119+107G>A | |
| ENST00000532494.5:c.119+107G>A | ENSP00000437047.1:n.119+107G>A | |
| ENST00000533639.5:c.119+107G>A | ENSP00000435715.1:n.119+107G>A | |
| ENST00000534418.5:c.119+107G>A | ENSP00000431354.1:n.119+107G>A | |
| NM_033226.2:c.119+107G>A | NP_150229.2:n.119+107G>A | |
| NM_001392028.1:c.119+107G>A | NP_001378957.1:n.119+107G>A | |
| NM_001393797.1:c.119+107G>A MANE Select | NP_001380726.1:n.119+107G>A | |
| NM_033226.3:c.119+107G>A | NP_150229.2:n.119+107G>A | |
| NR_171628.1:n.591+107G>A | ||
| NR_171629.1:n.169+107G>A | ||
| NR_171630.1:n.169+107G>A | ||
| NR_171631.1:n.169+107G>A | ||
| NR_171632.1:n.169+107G>A | ||
| NR_171633.1:n.169+107G>A |