Linked Data
dbSNP Id:
rs1019630498
gnomAD v2:
2-38302743-C-A
gnomAD v3:
2-38075600-C-A
gnomAD v4:
2-38075600-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075600C>A , CM000664.2:g.38075600C>A | GRCh38 |
| NC_000002.11:g.38302743C>A , CM000664.1:g.38302743C>A | GRCh37 |
| NC_000002.10:g.38156247C>A | NCBI36 |
| NG_008386.2:g.5502G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.-1-211G>T | ENSP00000478839.2:n.-1-211G>T | |
| ENST00000610745.5:c.-2+180G>T MANE Select | ENSP00000478561.1:n.-2+180G>T | |
| ENST00000490576.1:c.-1-211G>T | ENSP00000478839.1:n.-1-211G>T | |
| ENST00000494864.1:c.-70-4290G>T | ENSP00000479876.1:n.-70-4290G>T | |
| ENST00000610745.4:c.-2+180G>T | ENSP00000478561.1:n.-2+180G>T | |
| ENST00000613082.1:n.375+180G>T | ||
| ENST00000614273.1:c.-2+176G>T | ENSP00000483678.1:n.-2+176G>T | |
| NM_000104.3:c.-2+180G>T | NP_000095.2:n.-2+180G>T | |
| XM_011533236.1:c.214C>A | XP_011531538.1:p.Pro72Thr | |
| NM_000104.4:c.-2+180G>T MANE Select | NP_000095.2:n.-2+180G>T |