Linked Data
dbSNP Id:
rs1113673
gnomAD v2:
1-117726785-C-A
gnomAD v3:
1-117184163-C-A
gnomAD v4:
1-117184163-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.117184163C>A , CM000663.2:g.117184163C>A | GRCh38 |
| NC_000001.10:g.117726785C>A , CM000663.1:g.117726785C>A | GRCh37 |
| NC_000001.9:g.117528308C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369458.8:c.33-13992G>T MANE Select | ENSP00000358470.3:n.33-13992G>T | |
| ENST00000328189.7:c.33-13992G>T | ENSP00000328168.3:n.33-13992G>T | |
| ENST00000369458.7:c.33-13992G>T | ENSP00000358470.3:n.33-13992G>T | |
| ENST00000430871.3:c.33-13992G>T | ENSP00000484316.1:n.33-13992G>T | |
| ENST00000463461.5:n.105-13992G>T | ||
| ENST00000488493.1:n.220-13992G>T | ||
| ENST00000539893.5:c.-253-13992G>T | ENSP00000444724.1:n.-253-13992G>T | |
| NM_001253849.1:c.-253-13992G>T | NP_001240778.1:n.-253-13992G>T | |
| NM_001253850.1:c.33-13992G>T | NP_001240779.1:n.33-13992G>T | |
| NM_024626.3:c.33-13992G>T | NP_078902.2:n.33-13992G>T | |
| NR_045603.1:n.138-13992G>T | ||
| NR_045604.1:n.138-13992G>T | ||
| XM_011542144.1:c.87-13992G>T | XP_011540446.1:n.87-13992G>T | |
| XM_017002335.2:c.-231-11991G>T | XP_016857824.1:n.-231-11991G>T | |
| NM_024626.4:c.33-13992G>T MANE Select | NP_078902.2:n.33-13992G>T | |
| NR_045603.2:n.105-13992G>T | ||
| NR_045604.2:n.105-13992G>T | ||
| NM_001253849.2:c.-253-13992G>T | NP_001240778.1:n.-253-13992G>T | |
| NM_001253850.2:c.33-13992G>T | NP_001240779.1:n.33-13992G>T |