Linked Data
dbSNP Id:
rs902737106
gnomAD v2:
17-72913340-A-T
gnomAD v3:
17-74917246-A-T
gnomAD v4:
17-74917246-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74917246A>T , CM000679.2:g.74917246A>T | GRCh38 |
| NC_000017.10:g.72913340A>T , CM000679.1:g.72913340A>T | GRCh37 |
| NC_000017.9:g.70424935A>T | NCBI36 |
| NG_007882.1:g.11012T>A | |
| NG_007882.2:g.11018T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.*827T>A MANE Select | ENSP00000480279.1:n.*827T>A | |
| ENST00000614341.4:c.*827T>A | ENSP00000480279.1:n.*827T>A | |
| NM_001282489.2:c.*827T>A | NP_001269418.1:n.*827T>A | |
| NM_173477.4:c.*827T>A | NP_775748.2:n.*827T>A | |
| XM_011524296.1:c.*827T>A | XP_011522598.1:n.*827T>A | |
| XM_011524296.2:c.*827T>A | XP_011522598.1:n.*827T>A | |
| NM_173477.5:c.*827T>A MANE Select | NP_775748.2:n.*827T>A | |
| NM_001282489.3:c.*827T>A | NP_001269418.1:n.*827T>A |