Linked Data
dbSNP Id:
rs10181042
gnomAD v2:
2-61224259-C-T
gnomAD v3:
2-60997124-C-T
gnomAD v4:
2-60997124-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60997124C>T , CM000664.2:g.60997124C>T | GRCh38 |
| NC_000002.11:g.61224259C>T , CM000664.1:g.61224259C>T | GRCh37 |
| NC_000002.10:g.61077763C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316752.11:c.468+9433G>A MANE Select | ENSP00000326003.6:n.468+9433G>A | |
| ENST00000316752.10:c.468+9433G>A | ENSP00000326003.6:n.468+9433G>A | |
| ENST00000407787.5:c.468+9433G>A | ENSP00000386074.1:n.468+9433G>A | |
| ENST00000602599.1:n.735+9433G>A | ||
| NM_144709.2:c.468+9433G>A | NP_653310.2:n.468+9433G>A | |
| XM_006711952.2:c.468+9433G>A | XP_006712015.1:n.468+9433G>A | |
| XM_011532568.1:c.468+9433G>A | XP_011530870.1:n.468+9433G>A | |
| XM_011532569.1:c.468+9433G>A | XP_011530871.1:n.468+9433G>A | |
| XM_011532570.1:c.468+9433G>A | XP_011530872.1:n.468+9433G>A | |
| XM_011532571.1:c.468+9433G>A | XP_011530873.1:n.468+9433G>A | |
| XM_011532572.1:c.468+9433G>A | XP_011530874.1:n.468+9433G>A | |
| XM_011532573.1:c.468+9433G>A | XP_011530875.1:n.468+9433G>A | |
| XM_011532574.1:c.468+9433G>A | XP_011530876.1:n.468+9433G>A | |
| XM_011532575.1:c.468+9433G>A | XP_011530877.1:n.468+9433G>A | |
| XM_011532576.1:c.468+9433G>A | XP_011530878.1:n.468+9433G>A | |
| XM_011532577.1:c.468+9433G>A | XP_011530879.1:n.468+9433G>A | |
| XM_011532578.1:c.279+9433G>A | XP_011530880.1:n.279+9433G>A | |
| NM_001322123.1:c.468+9433G>A | NP_001309052.1:n.468+9433G>A | |
| NM_001322124.1:c.468+9433G>A | NP_001309053.1:n.468+9433G>A | |
| NM_001322127.1:c.-140+9433G>A | NP_001309056.1:n.-140+9433G>A | |
| NM_144709.3:c.468+9433G>A | NP_653310.2:n.468+9433G>A | |
| XM_011532568.3:c.468+9433G>A | XP_011530870.1:n.468+9433G>A | |
| XM_011532570.2:c.468+9433G>A | XP_011530872.1:n.468+9433G>A | |
| XM_011532571.2:c.468+9433G>A | XP_011530873.1:n.468+9433G>A | |
| XM_011532573.3:c.468+9433G>A | XP_011530875.1:n.468+9433G>A | |
| XM_011532574.3:c.468+9433G>A | XP_011530876.1:n.468+9433G>A | |
| XM_011532576.3:c.468+9433G>A | XP_011530878.1:n.468+9433G>A | |
| XM_011532578.2:c.279+9433G>A | XP_011530880.1:n.279+9433G>A | |
| XM_017003428.2:c.213+9433G>A | XP_016858917.1:n.213+9433G>A | |
| XM_017003429.2:c.213+9433G>A | XP_016858918.1:n.213+9433G>A | |
| XM_024452720.1:c.468+9433G>A | XP_024308488.1:n.468+9433G>A | |
| NM_144709.4:c.468+9433G>A MANE Select | NP_653310.2:n.468+9433G>A |