Linked Data
dbSNP Id:
rs968089035
gnomAD v2:
2-85773663-C-T
gnomAD v3:
2-85546540-C-T
gnomAD v4:
2-85546540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85546540C>T , CM000664.2:g.85546540C>T | GRCh38 |
| NC_000002.11:g.85773663C>T , CM000664.1:g.85773663C>T | GRCh37 |
| NC_000002.10:g.85627174C>T | NCBI36 |
| NG_011811.2:g.19995G>A | |
| NG_029183.1:g.12563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233838.9:c.*3394G>A MANE Select | ENSP00000233838.3:n.*3394G>A | |
| ENST00000233838.8:c.*3394G>A | ENSP00000233838.3:n.*3394G>A | |
| NM_000821.5:c.*3394G>A | NP_000812.2:n.*3394G>A | |
| NM_000821.6:c.*3394G>A | NP_000812.2:n.*3394G>A | |
| NM_001142269.2:c.*3394G>A | NP_001135741.1:n.*3394G>A | |
| NM_001142269.3:c.*3394G>A | NP_001135741.1:n.*3394G>A | |
| NM_000821.7:c.*3394G>A MANE Select | NP_000812.2:n.*3394G>A | |
| NM_001142269.4:c.*3394G>A | NP_001135741.1:n.*3394G>A |