Linked Data
dbSNP Id:
rs1392292870
gnomAD v2:
7-100230483-C-A
gnomAD v3:
7-100632860-C-A
gnomAD v4:
7-100632860-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100632860C>A , CM000669.2:g.100632860C>A | GRCh38 |
| NC_000007.13:g.100230483C>A , CM000669.1:g.100230483C>A | GRCh37 |
| NC_000007.12:g.100068419C>A | NCBI36 |
| NG_007989.1:g.13691G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.849+141G>T MANE Select | ENSP00000223051.3:n.849+141G>T | |
| ENST00000223051.7:c.849+141G>T | ENSP00000223051.3:n.849+141G>T | |
| ENST00000431692.5:c.849+141G>T | ENSP00000413905.1:n.849+141G>T | |
| ENST00000462090.5:n.90+141G>T | ||
| ENST00000462107.1:c.849+141G>T | ENSP00000420525.1:n.849+141G>T | |
| ENST00000465294.5:n.854+141G>T | ||
| ENST00000473374.5:n.299+141G>T | ||
| ENST00000473571.1:n.303+141G>T | ||
| ENST00000475011.1:n.519G>T | ||
| ENST00000476304.5:n.470+141G>T | ||
| ENST00000490084.5:c.104+141G>T | ||
| NM_001206855.1:c.336+141G>T | NP_001193784.1:n.336+141G>T | |
| NM_003227.3:c.849+141G>T | NP_003218.2:n.849+141G>T | |
| XM_005250553.3:c.849+141G>T | XP_005250610.1:n.849+141G>T | |
| XM_005250554.3:c.849+141G>T | XP_005250611.1:n.849+141G>T | |
| XR_927814.1:n.504-63C>A | ||
| NM_001206855.2:c.336+141G>T | NP_001193784.1:n.336+141G>T | |
| XM_005250553.4:c.849+141G>T | XP_005250610.1:n.849+141G>T | |
| XM_017012573.1:c.849+141G>T | XP_016868062.1:n.849+141G>T | |
| NM_003227.4:c.849+141G>T MANE Select | NP_003218.2:n.849+141G>T | |
| NM_001206855.3:c.336+141G>T | NP_001193784.1:n.336+141G>T |