Linked Data
ClinVar Variation Id:
1262379
ClinVar RCV Id:
RCV001667498
dbSNP Id:
rs78121950
ExAC:
11:118897263 G / A
gnomAD v2:
11-118897263-G-A
gnomAD v3:
11-119026553-G-A
gnomAD v4:
11-119026553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026553G>A , CM000673.2:g.119026553G>A | GRCh38 |
| NC_000011.9:g.118897263G>A , CM000673.1:g.118897263G>A | GRCh37 |
| NC_000011.8:g.118402473G>A | NCBI36 |
| NG_013331.1:g.9353C>T , LRG_187:g.9353C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1014+384C>T | ||
| ENST00000697845.1:n.1322C>T | ||
| ENST00000697846.1:n.1014+384C>T | ||
| ENST00000697847.1:n.1150C>T | ||
| ENST00000697848.1:n.1100+50C>T | ||
| ENST00000697849.1:n.2437C>T | ||
| ENST00000697850.1:n.1100+50C>T | ||
| ENST00000697851.1:n.2708+50C>T | ||
| ENST00000638186.1:n.1174+50C>T | ||
| ENST00000638360.1:n.1006+50C>T | ||
| ENST00000638925.1:n.1139+18C>T | ||
| ENST00000650539.1:n.1276+50C>T | ||
| ENST00000330775.9:c.870+50C>T | ENSP00000476242.2:n.870+50C>T | |
| ENST00000357590.9:c.870+50C>T | ENSP00000476176.2:n.870+50C>T | |
| ENST00000524428.5:n.1106+384C>T | ||
| ENST00000525039.5:n.1294+50C>T | ||
| ENST00000525102.5:n.1628+50C>T | ||
| ENST00000525372.5:n.921C>T | ||
| ENST00000526275.5:n.1652+50C>T | ||
| ENST00000527992.5:n.1098+50C>T | ||
| ENST00000529510.5:n.558+384C>T | ||
| ENST00000530407.5:n.1020+50C>T | ||
| ENST00000532085.1:n.3779C>T | ||
| ENST00000538950.5:c.651+50C>T | ENSP00000475991.2:n.651+50C>T | |
| ENST00000545985.5:c.870+50C>T | ENSP00000475241.2:n.870+50C>T | |
| NM_001164277.1:c.870+50C>T , LRG_187t1:c.870+50C>T | NP_001157749.1:n.870+50C>T | |
| NM_001164278.1:c.870+50C>T | NP_001157750.1:n.870+50C>T | |
| NM_001164279.1:c.651+50C>T | NP_001157751.1:n.651+50C>T | |
| NM_001164280.1:c.870+50C>T | NP_001157752.1:n.870+50C>T | |
| NM_001467.5:c.870+50C>T | NP_001458.1:n.870+50C>T | |
| NM_001164278.2:c.870+50C>T | NP_001157750.1:n.870+50C>T | |
| NM_001164279.2:c.651+50C>T | NP_001157751.1:n.651+50C>T | |
| NM_001164280.2:c.870+50C>T | NP_001157752.1:n.870+50C>T | |
| NM_001467.6:c.870+50C>T | NP_001458.1:n.870+50C>T | |
| NM_001164277.2:c.870+50C>T MANE Select | NP_001157749.1:n.870+50C>T |