Linked Data
dbSNP Id:
rs41296654
gnomAD v2:
7-100218181-C-A
gnomAD v3:
7-100620558-C-A
gnomAD v4:
7-100620558-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100620558C>A , CM000669.2:g.100620558C>A | GRCh38 |
| NC_000007.13:g.100218181C>A , CM000669.1:g.100218181C>A | GRCh37 |
| NC_000007.12:g.100056117C>A | NCBI36 |
| NG_007989.1:g.25993G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.*299G>T MANE Select | ENSP00000223051.3:n.*299G>T | |
| ENST00000223051.7:c.*299G>T | ENSP00000223051.3:n.*299G>T | |
| ENST00000431692.5:c.*1380G>T | ENSP00000413905.1:n.*1380G>T | |
| ENST00000462090.5:n.1741G>T | ||
| ENST00000462107.1:c.*299G>T | ENSP00000420525.1:n.*299G>T | |
| ENST00000465294.5:n.2625G>T | ||
| ENST00000476304.5:n.2326G>T | ||
| ENST00000490084.5:c.2058G>T | ||
| NM_001206855.1:c.*299G>T | NP_001193784.1:n.*299G>T | |
| NM_003227.3:c.*299G>T | NP_003218.2:n.*299G>T | |
| XM_005250553.3:c.*299G>T | XP_005250610.1:n.*299G>T | |
| NM_001206855.2:c.*299G>T | NP_001193784.1:n.*299G>T | |
| XM_005250553.4:c.*299G>T | XP_005250610.1:n.*299G>T | |
| XM_017012573.1:c.*299G>T | XP_016868062.1:n.*299G>T | |
| NM_003227.4:c.*299G>T MANE Select | NP_003218.2:n.*299G>T | |
| NM_001206855.3:c.*299G>T | NP_001193784.1:n.*299G>T |