Linked Data
dbSNP Id:
rs1556470727
gnomAD v2:
X-37663100-T-A
gnomAD v3:
X-37803847-T-A
gnomAD v4:
X-37803847-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37803847T>A , CM000685.2:g.37803847T>A | GRCh38 |
| NC_000023.10:g.37663100T>A , CM000685.1:g.37663100T>A | GRCh37 |
| NC_000023.9:g.37548044T>A | NCBI36 |
| NG_009065.1:g.28831T>A , LRG_53:g.28831T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*407-30T>A | ENSP00000512461.1:n.*407-30T>A | |
| ENST00000696171.1:c.802-30T>A | ENSP00000512462.1:n.802-30T>A | |
| ENST00000378588.5:c.898-30T>A MANE Select | ENSP00000367851.4:n.898-30T>A | |
| ENST00000378588.4:c.898-30T>A | ENSP00000367851.4:n.898-30T>A | |
| ENST00000465127.1:c.171+377847T>A | ENSP00000417050.1:n.171+377847T>A | |
| ENST00000492288.1:n.323-30T>A | ||
| NM_000397.3:c.898-30T>A , LRG_53t1:c.898-30T>A | NP_000388.2:n.898-30T>A | |
| XM_011543890.1:c.592-30T>A | XP_011542192.1:n.592-30T>A | |
| NM_000397.4:c.898-30T>A MANE Select | NP_000388.2:n.898-30T>A |