Linked Data
dbSNP Id:
rs16859517
gnomAD v2:
2-219949184-C-T
gnomAD v3:
2-219084462-C-T
gnomAD v4:
2-219084462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219084462C>T , CM000664.2:g.219084462C>T | GRCh38 |
| NC_000002.11:g.219949184C>T , CM000664.1:g.219949184C>T | GRCh37 |
| NC_000002.10:g.219657428C>T | NCBI36 |
| NG_007880.1:g.81404G>A , LRG_90:g.81404G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426304.6:c.589-6256G>A | ENSP00000394896.2:n.589-6256G>A | |
| ENST00000457600.3:c.589-6256G>A | ENSP00000407201.2:n.589-6256G>A | |
| ENST00000698174.1:c.589-6256G>A | ENSP00000513594.1:n.589-6256G>A | |
| ENST00000698175.1:c.*336-6256G>A | ENSP00000513595.1:n.*336-6256G>A | |
| ENST00000698176.1:n.661-6256G>A | ||
| ENST00000698202.1:c.589-6256G>A | ENSP00000513605.1:n.589-6256G>A | |
| ENST00000698203.1:c.589-6256G>A | ENSP00000513606.1:n.589-6256G>A | |
| ENST00000356853.10:c.589-6256G>A MANE Select | ENSP00000349313.5:n.589-6256G>A | |
| ENST00000318673.6:c.*1711-6256G>A | ENSP00000320919.3:n.*1711-6256G>A | |
| ENST00000356853.9:c.589-6256G>A | ENSP00000349313.5:n.589-6256G>A | |
| ENST00000409720.5:c.589-6256G>A | ENSP00000387290.1:n.589-6256G>A | |
| ENST00000418099.5:c.671-6256G>A | ENSP00000408966.1:n.671-6256G>A | |
| ENST00000426304.5:c.349-6256G>A | ENSP00000394896.1:n.349-6256G>A | |
| ENST00000457600.2:c.589-6256G>A | ENSP00000407201.1:n.589-6256G>A | |
| ENST00000483627.1:n.273-6256G>A | ||
| ENST00000491159.5:n.183-6256G>A | ||
| ENST00000494211.5:n.155-6256G>A | ||
| ENST00000498327.5:n.2859-6256G>A | ||
| NM_024782.2:c.589-6256G>A , LRG_90t1:c.589-6256G>A | NP_079058.1:n.589-6256G>A | |
| NM_001377498.1:c.589-6256G>A | NP_001364427.1:n.589-6256G>A | |
| NM_001377499.1:c.589-6256G>A | NP_001364428.1:n.589-6256G>A | |
| NM_024782.3:c.589-6256G>A MANE Select | NP_079058.1:n.589-6256G>A | |
| NR_165304.1:n.767-6256G>A |