Linked Data
dbSNP Id:
rs532613157
gnomAD v2:
22-19785063-C-T
gnomAD v3:
22-19797540-C-T
gnomAD v4:
22-19797540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19797540C>T , CM000684.2:g.19797540C>T | GRCh38 |
| NC_000022.10:g.19785063C>T , CM000684.1:g.19785063C>T | GRCh37 |
| NC_000022.9:g.18165063C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329517.11:c.732+4461G>A MANE Select | ENSP00000331313.6:n.732+4461G>A | |
| ENST00000329517.10:c.732+4461G>A | ENSP00000331313.6:n.732+4461G>A | |
| ENST00000403325.5:c.732+4461G>A | ENSP00000385154.1:n.732+4461G>A | |
| ENST00000405009.5:c.630+4563G>A | ENSP00000384626.1:n.630+4563G>A | |
| ENST00000460402.5:n.700+4461G>A | ||
| NM_053004.2:c.732+4461G>A | NP_443730.1:n.732+4461G>A | |
| NM_053004.3:c.732+4461G>A MANE Select | NP_443730.1:n.732+4461G>A |