Linked Data
dbSNP Id:
rs17601612
gnomAD v2:
11-113317745-G-C
gnomAD v3:
11-113447023-G-C
gnomAD v4:
11-113447023-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113447023G>C , CM000673.2:g.113447023G>C | GRCh38 |
| NC_000011.9:g.113317745G>C , CM000673.1:g.113317745G>C | GRCh37 |
| NC_000011.8:g.112822955G>C | NCBI36 |
| NG_008841.1:g.33257C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362072.8:c.-31-22341C>G MANE Select | ENSP00000354859.3:n.-31-22341C>G | |
| ENST00000346454.7:c.-31-22341C>G | ENSP00000278597.5:n.-31-22341C>G | |
| ENST00000362072.7:c.-31-22341C>G | ENSP00000354859.3:n.-31-22341C>G | |
| ENST00000540600.5:n.35-22341C>G | ||
| ENST00000542616.1:c.-31-22341C>G | ENSP00000441474.1:n.-31-22341C>G | |
| ENST00000543292.1:c.-32+548C>G | ENSP00000438419.1:n.-32+548C>G | |
| NM_000795.3:c.-31-22341C>G | NP_000786.1:n.-31-22341C>G | |
| NM_016574.3:c.-31-22341C>G | NP_057658.2:n.-31-22341C>G | |
| XM_017017296.2:c.-31-22341C>G | XP_016872785.1:n.-31-22341C>G | |
| NM_000795.4:c.-31-22341C>G MANE Select | NP_000786.1:n.-31-22341C>G | |
| NM_016574.4:c.-31-22341C>G | NP_057658.2:n.-31-22341C>G |