Linked Data
dbSNP Id:
rs375027061
gnomAD v4:
9-136498965-C-T
MyVariant Identifiers:
chr9:g.139393417C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136498965C>T , CM000671.2:g.136498965C>T | GRCh38 |
| NC_000009.11:g.139393417C>T , CM000671.1:g.139393417C>T | GRCh37 |
| NC_000009.10:g.138513238C>T | NCBI36 |
| NG_007458.1:g.51822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6114G>A MANE Select | ENSP00000498587.1:p.Val2038= | |
| ENST00000679595.1:c.*1154G>A | ENSP00000506241.1:n.*1154G>A | |
| ENST00000679969.1:n.2710G>A | ||
| ENST00000680003.1:n.2446G>A | ||
| ENST00000680133.1:c.6000G>A | ENSP00000505319.1:p.Val2000= | |
| ENST00000680218.1:c.5994G>A | ENSP00000505339.1:p.Val1998= | |
| ENST00000680668.1:c.6000G>A | ENSP00000506336.1:p.Val2000= | |
| ENST00000680778.1:c.3711G>A | ENSP00000506033.1:p.Val1237= | |
| ENST00000680924.1:c.*3514G>A | ENSP00000506031.1:n.*3514G>A | |
| ENST00000681135.1:c.*3723G>A | ENSP00000506636.1:n.*3723G>A | |
| ENST00000681298.1:n.4219G>A | ||
| ENST00000681454.1:c.*5350G>A | ENSP00000505763.1:n.*5350G>A | |
| ENST00000277541.6:c.6114G>A | ENSP00000277541.6:p.Val2038= | |
| NM_017617.3:c.6114G>A | NP_060087.3:p.Val2038= | |
| XM_011518717.1:c.5415G>A | XP_011517019.1:p.Val1805= | |
| NM_017617.5:c.6114G>A MANE Select | NP_060087.3:p.Val2038= | |
| XM_011518717.2:c.5391G>A | XP_011517019.2:p.Val1797= |