Linked Data
dbSNP Id:
rs181922800
gnomAD v2:
22-42276644-G-T
gnomAD v3:
22-41880640-G-T
gnomAD v4:
22-41880640-G-T
COSMIC:
COSN26436030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41880640G>T , CM000684.2:g.41880640G>T | GRCh38 |
| NC_000022.10:g.42276644G>T , CM000684.1:g.42276644G>T | GRCh37 |
| NC_000022.9:g.40606590G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710853.1:c.1672-76G>T | ENSP00000518526.1:n.1672-76G>T | |
| ENST00000361204.9:c.1762-76G>T MANE Select | ENSP00000354476.4:n.1762-76G>T | |
| ENST00000361204.8:c.1762-76G>T | ENSP00000354476.4:n.1762-76G>T | |
| ENST00000424354.5:c.1862-76G>T | ENSP00000395728.1:n.1862-76G>T | |
| ENST00000612482.4:c.1772-76G>T | ENSP00000484441.1:n.1772-76G>T | |
| NM_004599.3:c.1762-76G>T | NP_004590.2:n.1762-76G>T | |
| NR_103834.1:n.2054-76G>T | ||
| XM_006724310.1:c.1672-76G>T | XP_006724373.1:n.1672-76G>T | |
| XM_011530347.1:c.1387-76G>T | XP_011528649.1:n.1387-76G>T | |
| XM_006724310.3:c.1672-76G>T | XP_006724373.1:n.1672-76G>T | |
| XM_011530347.2:c.1387-76G>T | XP_011528649.1:n.1387-76G>T | |
| XM_017028921.2:c.1762-76G>T | XP_016884410.1:n.1762-76G>T | |
| XM_017028922.2:c.1762-76G>T | XP_016884411.1:n.1762-76G>T | |
| XR_001755276.2:n.1905-76G>T | ||
| XR_001755277.2:n.1905-76G>T | ||
| XR_001755278.2:n.2028-76G>T | ||
| NM_004599.4:c.1762-76G>T MANE Select | NP_004590.2:n.1762-76G>T | |
| NR_103834.2:n.2028-76G>T |