Linked Data
dbSNP Id:
rs11191865
gnomAD v2:
10-105672842-G-A
gnomAD v3:
10-103913084-G-A
gnomAD v4:
10-103913084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103913084G>A , CM000672.2:g.103913084G>A | GRCh38 |
| NC_000010.10:g.105672842G>A , CM000672.1:g.105672842G>A | GRCh37 |
| NC_000010.9:g.105662832G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369764.2:c.134-2462C>T | ENSP00000358779.1:n.134-2462C>T | |
| ENST00000466828.6:c.134-2462C>T | ENSP00000513624.1:n.134-2462C>T | |
| ENST00000698241.1:c.134-2462C>T | ENSP00000513621.1:n.134-2462C>T | |
| ENST00000698242.1:c.134-2462C>T | ENSP00000513622.1:n.134-2462C>T | |
| ENST00000698243.1:c.134-2462C>T | ENSP00000513623.1:n.134-2462C>T | |
| ENST00000698245.1:c.134-2462C>T | ENSP00000513626.1:n.134-2462C>T | |
| ENST00000698246.1:c.134-2462C>T | ENSP00000513627.1:n.134-2462C>T | |
| ENST00000698297.1:c.134-2462C>T | ENSP00000513657.1:n.134-2462C>T | |
| ENST00000698298.1:c.134-2462C>T | ENSP00000513658.1:n.134-2462C>T | |
| ENST00000698299.1:c.134-2462C>T | ENSP00000513659.1:n.134-2462C>T | |
| ENST00000698300.1:c.134-2462C>T | ENSP00000513660.1:n.134-2462C>T | |
| ENST00000698301.1:c.-365-2462C>T | ENSP00000513661.1:n.-365-2462C>T | |
| ENST00000698302.1:c.313-2462C>T | ENSP00000513662.1:n.313-2462C>T | |
| ENST00000698303.1:c.133+4378C>T | ENSP00000513663.1:n.133+4378C>T | |
| ENST00000698304.1:c.134-2462C>T | ENSP00000513664.1:n.134-2462C>T | |
| ENST00000698305.1:c.134-2462C>T | ENSP00000513665.1:n.134-2462C>T | |
| ENST00000698328.1:c.134-2462C>T | ENSP00000513669.1:n.134-2462C>T | |
| ENST00000224950.8:c.134-2462C>T MANE Select | ENSP00000224950.3:n.134-2462C>T | |
| ENST00000224950.7:c.134-2462C>T | ENSP00000224950.3:n.134-2462C>T | |
| ENST00000369764.1:c.134-2462C>T | ENSP00000358779.1:n.134-2462C>T | |
| ENST00000466828.5:n.227-2462C>T | ||
| NM_024928.4:c.134-2462C>T | NP_079204.2:n.134-2462C>T | |
| XM_006717976.2:c.134-2462C>T | XP_006718039.1:n.134-2462C>T | |
| XM_011540184.1:c.134-2462C>T | XP_011538486.1:n.134-2462C>T | |
| NM_024928.5:c.134-2462C>T MANE Select | NP_079204.2:n.134-2462C>T |