Linked Data
dbSNP Id:
rs2010750
gnomAD v2:
17-40723391-C-T
gnomAD v3:
17-42571373-C-T
gnomAD v4:
17-42571373-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42571373C>T , CM000679.2:g.42571373C>T | GRCh38 |
| NC_000017.10:g.40723391C>T , CM000679.1:g.40723391C>T | GRCh37 |
| NC_000017.9:g.37976917C>T | NCBI36 |
| NG_029442.1:g.9314C>T | |
| NG_031960.1:g.11459G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435881.7:c.679-174C>T MANE Select | ENSP00000416627.1:n.679-174C>T | |
| ENST00000246912.8:c.841-174C>T | ENSP00000246912.3:n.841-174C>T | |
| ENST00000346833.8:c.589-174C>T | ENSP00000320913.3:n.589-174C>T | |
| ENST00000435881.6:c.679-174C>T | ENSP00000416627.1:n.679-174C>T | |
| ENST00000585403.5:n.886-174C>T | ||
| ENST00000588320.1:n.1155-174C>T | ||
| ENST00000590050.5:n.845-174C>T | ||
| NM_170607.2:c.841-174C>T | NP_733752.1:n.841-174C>T | |
| NM_198204.1:c.679-174C>T | NP_937847.1:n.679-174C>T | |
| NM_198205.1:c.589-174C>T | NP_937848.1:n.589-174C>T | |
| NM_198204.2:c.679-174C>T MANE Select | NP_937847.1:n.679-174C>T | |
| NM_170607.3:c.841-174C>T | NP_733752.1:n.841-174C>T | |
| NM_198205.2:c.589-174C>T | NP_937848.1:n.589-174C>T |