Linked Data
dbSNP Id:
rs1387977470
gnomAD v2:
2-219746706-G-A
gnomAD v3:
2-218881984-G-A
gnomAD v4:
2-218881984-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218881984G>A , CM000664.2:g.218881984G>A | GRCh38 |
| NC_000002.11:g.219746706G>A , CM000664.1:g.219746706G>A | GRCh37 |
| NC_000002.10:g.219454950G>A | NCBI36 |
| NG_012179.1:g.6452G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.114-177G>A MANE Select | ENSP00000258411.3:n.114-177G>A | |
| ENST00000258411.7:c.114-177G>A | ENSP00000258411.3:n.114-177G>A | |
| NM_025216.2:c.114-177G>A | NP_079492.2:n.114-177G>A | |
| XM_011511928.1:c.63-177G>A | XP_011510230.1:n.63-177G>A | |
| XM_011511929.1:c.18-177G>A | XP_011510231.1:n.18-177G>A | |
| XM_011511930.1:c.114-177G>A | XP_011510232.1:n.114-177G>A | |
| XM_011511929.2:c.18-177G>A | XP_011510231.1:n.18-177G>A | |
| NM_025216.3:c.114-177G>A MANE Select | NP_079492.2:n.114-177G>A |