Linked Data
dbSNP Id:
rs778707907
gnomAD v2:
1-24122987-G-A
gnomAD v3:
1-23796497-G-A
gnomAD v4:
1-23796497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23796497G>A , CM000663.2:g.23796497G>A | GRCh38 |
| NC_000001.10:g.24122987G>A , CM000663.1:g.24122987G>A | GRCh37 |
| NC_000001.9:g.23995574G>A | NCBI36 |
| NG_007068.1:g.9308C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.873+12C>T MANE Select | ENSP00000483375.1:n.873+12C>T | |
| ENST00000374497.7:c.873+12C>T | ENSP00000363621.3:n.873+12C>T | |
| ENST00000429356.5:c.603+200C>T | ENSP00000398585.1:n.603+200C>T | |
| ENST00000456977.5:c.153+200C>T | ENSP00000397045.1:n.153+200C>T | |
| ENST00000459934.5:n.1101+12C>T | ||
| ENST00000469556.1:n.389C>T | ||
| ENST00000481736.5:n.1277+12C>T | ||
| ENST00000617979.4:c.873+12C>T | ENSP00000483375.1:n.873+12C>T | |
| NM_000403.3:c.873+12C>T | NP_000394.2:n.873+12C>T | |
| NM_001008216.1:c.873+12C>T | NP_001008217.1:n.873+12C>T | |
| NM_001127621.1:c.873+12C>T | NP_001121093.1:n.873+12C>T | |
| NM_001008216.2:c.873+12C>T MANE Select | NP_001008217.1:n.873+12C>T | |
| NM_000403.4:c.873+12C>T | NP_000394.2:n.873+12C>T | |
| NM_001127621.2:c.873+12C>T | NP_001121093.1:n.873+12C>T |