Linked Data
dbSNP Id:
rs2344671
gnomAD v2:
1-163040864-G-A
gnomAD v3:
1-163071074-G-A
gnomAD v4:
1-163071074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.163071074G>A , CM000663.2:g.163071074G>A | GRCh38 |
| NC_000001.10:g.163040864G>A , CM000663.1:g.163040864G>A | GRCh37 |
| NC_000001.9:g.161307488G>A | NCBI36 |
| NG_023312.1:g.7469G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367909.11:c.45-1321G>A MANE Select | ENSP00000356885.6:n.45-1321G>A | |
| ENST00000367908.8:c.45-1321G>A | ENSP00000356884.4:n.45-1321G>A | |
| ENST00000367909.10:c.45-1321G>A | ENSP00000356885.6:n.45-1321G>A | |
| ENST00000421743.6:c.336-1321G>A | ENSP00000397181.2:n.336-1321G>A | |
| ENST00000491263.1:n.167-1321G>A | ||
| ENST00000527393.5:n.358-1321G>A | ||
| ENST00000527809.5:c.-10-1321G>A | ENSP00000433261.1:n.-10-1321G>A | |
| ENST00000531057.5:c.45-1321G>A | ENSP00000436106.1:n.45-1321G>A | |
| ENST00000533019.1:n.183+355G>A | ||
| NM_001102445.2:c.336-1321G>A | NP_001095915.1:n.336-1321G>A | |
| NM_001113381.1:c.45-1321G>A | NP_001106852.1:n.45-1321G>A | |
| NM_005613.5:c.45-1321G>A | NP_005604.1:n.45-1321G>A | |
| NM_001102445.3:c.336-1321G>A | NP_001095915.1:n.336-1321G>A | |
| NM_005613.6:c.45-1321G>A MANE Select | NP_005604.1:n.45-1321G>A |