Linked Data
dbSNP Id:
rs1156571835
gnomAD v2:
22-32445842-A-C
gnomAD v3:
22-32049855-A-C
gnomAD v4:
22-32049855-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32049855A>C , CM000684.2:g.32049855A>C | GRCh38 |
| NC_000022.10:g.32445842A>C , CM000684.1:g.32445842A>C | GRCh37 |
| NC_000022.9:g.30775842A>C | NCBI36 |
| NG_017045.1:g.11824A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.136-88A>C MANE Select | ENSP00000266088.4:n.136-88A>C | |
| ENST00000266088.8:c.136-88A>C | ENSP00000266088.4:n.136-88A>C | |
| NM_000343.3:c.136-88A>C | NP_000334.1:n.136-88A>C | |
| XM_011530331.1:c.136-88A>C | XP_011528633.1:n.136-88A>C | |
| NM_000343.4:c.136-88A>C MANE Select | NP_000334.1:n.136-88A>C |