Linked Data
dbSNP Id:
rs1184940107
gnomAD v2:
22-37097565-T-C
gnomAD v3:
22-36701520-T-C
gnomAD v4:
22-36701520-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36701520T>C , CM000684.2:g.36701520T>C | GRCh38 |
| NC_000022.10:g.37097565T>C , CM000684.1:g.37097565T>C | GRCh37 |
| NC_000022.9:g.35427511T>C | NCBI36 |
| NG_031861.1:g.6126A>G | |
| NG_031861.2:g.6339A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.211+846A>G MANE Select | ENSP00000300105.6:n.211+846A>G | |
| ENST00000300105.6:c.211+846A>G | ENSP00000300105.6:n.211+846A>G | |
| NM_006078.3:c.211+846A>G | NP_006069.1:n.211+846A>G | |
| NM_006078.4:c.211+846A>G | NP_006069.1:n.211+846A>G | |
| NM_001379051.1:c.142+846A>G | NP_001365980.1:n.142+846A>G | |
| NM_006078.5:c.211+846A>G MANE Select | NP_006069.1:n.211+846A>G | |
| NR_166440.1:n.1387+846A>G |