Linked Data
dbSNP Id:
rs1298840835
gnomAD v2:
X-38262714-T-A
gnomAD v3:
X-38403461-T-A
gnomAD v4:
X-38403461-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403461T>A , CM000685.2:g.38403461T>A | GRCh38 |
| NC_000023.10:g.38262714T>A , CM000685.1:g.38262714T>A | GRCh37 |
| NC_000023.9:g.38147658T>A | NCBI36 |
| NG_008471.1:g.55979T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.541-157T>A MANE Select | ENSP00000039007.4:n.541-157T>A | |
| ENST00000643344.1:c.*291-157T>A | ENSP00000496606.1:n.*291-157T>A | |
| ENST00000039007.4:c.541-157T>A | ENSP00000039007.4:n.541-157T>A | |
| ENST00000465127.1:c.172-262660T>A | ENSP00000417050.1:n.172-262660T>A | |
| ENST00000488812.1:n.578-157T>A | ||
| NM_000531.5:c.541-157T>A | NP_000522.3:n.541-157T>A | |
| XM_017029556.1:c.541-157T>A | XP_016885045.1:n.541-157T>A | |
| NM_000531.6:c.541-157T>A MANE Select | NP_000522.3:n.541-157T>A |