Linked Data
dbSNP Id:
rs369130090
ExAC:
11:118896653 G / A
gnomAD v2:
11-118896653-G-A
gnomAD v3:
11-119025943-G-A
gnomAD v4:
11-119025943-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025943G>A , CM000673.2:g.119025943G>A | GRCh38 |
| NC_000011.9:g.118896653G>A , CM000673.1:g.118896653G>A | GRCh37 |
| NC_000011.8:g.118401863G>A | NCBI36 |
| NG_013331.1:g.9963C>T , LRG_187:g.9963C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1128+24C>T | ||
| ENST00000697845.1:n.1932C>T | ||
| ENST00000697846.1:n.1128+24C>T | ||
| ENST00000697847.1:n.1202-186C>T | ||
| ENST00000697848.1:n.1214+24C>T | ||
| ENST00000697849.1:n.3047C>T | ||
| ENST00000697850.1:n.1238C>T | ||
| ENST00000697851.1:n.2822+24C>T | ||
| ENST00000638186.1:n.1288+24C>T | ||
| ENST00000638360.1:n.1120+24C>T | ||
| ENST00000638925.1:n.1253+24C>T | ||
| ENST00000650539.1:n.1390+24C>T | ||
| ENST00000330775.9:c.984+24C>T | ENSP00000476242.2:n.984+24C>T | |
| ENST00000357590.9:c.984+24C>T | ENSP00000476176.2:n.984+24C>T | |
| ENST00000524428.5:n.1220+24C>T | ||
| ENST00000525039.5:n.1408+24C>T | ||
| ENST00000525102.5:n.1742+24C>T | ||
| ENST00000525372.5:n.1082+24C>T | ||
| ENST00000526275.5:n.1766+24C>T | ||
| ENST00000527992.5:n.1212+24C>T | ||
| ENST00000529510.5:n.672+24C>T | ||
| ENST00000530407.5:n.1134+24C>T | ||
| ENST00000532085.1:n.4389C>T | ||
| ENST00000538950.5:c.765+24C>T | ENSP00000475991.2:n.765+24C>T | |
| ENST00000545985.5:c.984+24C>T | ENSP00000475241.2:n.984+24C>T | |
| NM_001164277.1:c.984+24C>T , LRG_187t1:c.984+24C>T | NP_001157749.1:n.984+24C>T | |
| NM_001164278.1:c.984+24C>T | NP_001157750.1:n.984+24C>T | |
| NM_001164279.1:c.765+24C>T | NP_001157751.1:n.765+24C>T | |
| NM_001164280.1:c.984+24C>T | NP_001157752.1:n.984+24C>T | |
| NM_001467.5:c.984+24C>T | NP_001458.1:n.984+24C>T | |
| NM_001164278.2:c.984+24C>T | NP_001157750.1:n.984+24C>T | |
| NM_001164279.2:c.765+24C>T | NP_001157751.1:n.765+24C>T | |
| NM_001164280.2:c.984+24C>T | NP_001157752.1:n.984+24C>T | |
| NM_001467.6:c.984+24C>T | NP_001458.1:n.984+24C>T | |
| NM_001164277.2:c.984+24C>T MANE Select | NP_001157749.1:n.984+24C>T |