Linked Data
dbSNP Id:
rs3176861
gnomAD v2:
1-101187321-C-T
gnomAD v3:
1-100721765-C-T
gnomAD v4:
1-100721765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100721765C>T , CM000663.2:g.100721765C>T | GRCh38 |
| NC_000001.10:g.101187321C>T , CM000663.1:g.101187321C>T | GRCh37 |
| NC_000001.9:g.100959909C>T | NCBI36 |
| NG_023034.2:g.7025C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294728.7:c.340+1014C>T MANE Select | ENSP00000294728.2:n.340+1014C>T | |
| ENST00000650339.1:c.340+1014C>T | ENSP00000497582.1:n.340+1014C>T | |
| ENST00000294728.6:c.340+1014C>T | ENSP00000294728.2:n.340+1014C>T | |
| ENST00000347652.6:c.340+1014C>T | ENSP00000304611.2:n.340+1014C>T | |
| ENST00000370115.1:c.340+1014C>T | ENSP00000359133.1:n.340+1014C>T | |
| ENST00000370119.8:c.154+1200C>T | ENSP00000359137.3:n.154+1200C>T | |
| NM_001078.3:c.340+1014C>T | NP_001069.1:n.340+1014C>T | |
| NM_001199834.1:c.154+1200C>T | NP_001186763.1:n.154+1200C>T | |
| NM_080682.2:c.340+1014C>T | NP_542413.1:n.340+1014C>T | |
| NM_001078.4:c.340+1014C>T MANE Select | NP_001069.1:n.340+1014C>T | |
| NM_001199834.2:c.154+1200C>T | NP_001186763.1:n.154+1200C>T | |
| NM_080682.3:c.340+1014C>T | NP_542413.1:n.340+1014C>T |