Linked Data
dbSNP Id:
rs1538833
gnomAD v2:
10-93604353-G-A
gnomAD v3:
10-91844596-G-A
gnomAD v4:
10-91844596-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.91844596G>A , CM000672.2:g.91844596G>A | GRCh38 |
| NC_000010.10:g.93604353G>A , CM000672.1:g.93604353G>A | GRCh37 |
| NC_000010.9:g.93594333G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710380.1:c.2099-323G>A | ENSP00000518237.1:n.2099-323G>A | |
| ENST00000371627.5:c.2060-323G>A MANE Select | ENSP00000360689.4:n.2060-323G>A | |
| ENST00000371627.4:c.2060-323G>A | ENSP00000360689.4:n.2060-323G>A | |
| NM_025235.3:c.2060-323G>A | NP_079511.1:n.2060-323G>A | |
| XM_005270185.3:c.764-323G>A | XP_005270242.1:n.764-323G>A | |
| XM_011540213.1:c.2123-323G>A | XP_011538515.1:n.2123-323G>A | |
| XM_011540214.1:c.1484-323G>A | XP_011538516.1:n.1484-323G>A | |
| XM_011540215.1:c.647-323G>A | XP_011538517.1:n.647-323G>A | |
| XM_005270185.4:c.2132-323G>A | XP_005270242.2:n.2132-323G>A | |
| XM_011540215.2:c.647-323G>A | XP_011538517.1:n.647-323G>A | |
| XM_017016696.1:c.2069-323G>A | XP_016872185.1:n.2069-323G>A | |
| XM_017016697.1:c.1748-323G>A | XP_016872186.1:n.1748-323G>A | |
| XM_017016698.2:c.1748-323G>A | XP_016872187.1:n.1748-323G>A | |
| XM_017016699.1:c.1739-323G>A | XP_016872188.1:n.1739-323G>A | |
| XM_017016700.2:c.1493-323G>A | XP_016872189.1:n.1493-323G>A | |
| NM_025235.4:c.2060-323G>A MANE Select | NP_079511.1:n.2060-323G>A |