Linked Data
dbSNP Id:
rs2284018
gnomAD v2:
22-37097564-C-T
gnomAD v3:
22-36701519-C-T
gnomAD v4:
22-36701519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36701519C>T , CM000684.2:g.36701519C>T | GRCh38 |
| NC_000022.10:g.37097564C>T , CM000684.1:g.37097564C>T | GRCh37 |
| NC_000022.9:g.35427510C>T | NCBI36 |
| NG_031861.1:g.6127G>A | |
| NG_031861.2:g.6340G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300105.7:c.211+847G>A MANE Select | ENSP00000300105.6:n.211+847G>A | |
| ENST00000300105.6:c.211+847G>A | ENSP00000300105.6:n.211+847G>A | |
| NM_006078.3:c.211+847G>A | NP_006069.1:n.211+847G>A | |
| NM_006078.4:c.211+847G>A | NP_006069.1:n.211+847G>A | |
| NM_001379051.1:c.142+847G>A | NP_001365980.1:n.142+847G>A | |
| NM_006078.5:c.211+847G>A MANE Select | NP_006069.1:n.211+847G>A | |
| NR_166440.1:n.1387+847G>A |