Linked Data
dbSNP Id:
rs2283208
gnomAD v2:
11-2743859-G-A
gnomAD v3:
11-2722629-G-A
gnomAD v4:
11-2722629-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2722629G>A , CM000673.2:g.2722629G>A | GRCh38 |
| NC_000011.9:g.2743859G>A , CM000673.1:g.2743859G>A | GRCh37 |
| NC_000011.8:g.2700435G>A | NCBI36 |
| NG_008935.1:g.282639G>A , LRG_287:g.282639G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1158-46215G>A | ENSP00000434560.2:n.1158-46215G>A | |
| ENST00000646564.2:c.975-46215G>A | ENSP00000495806.2:n.975-46215G>A | |
| ENST00000155840.12:c.1515-46215G>A MANE Select | ENSP00000155840.2:n.1515-46215G>A | |
| ENST00000335475.6:c.1134-46215G>A | ENSP00000334497.5:n.1134-46215G>A | |
| ENST00000646564.1:c.621-46215G>A | ENSP00000495806.1:n.621-46215G>A | |
| ENST00000155840.9:c.1515-46215G>A | ENSP00000155840.2:n.1515-46215G>A | |
| ENST00000335475.5:c.1134-46215G>A | ENSP00000334497.5:n.1134-46215G>A | |
| NM_000218.2:c.1515-46215G>A , LRG_287t1:c.1515-46215G>A | NP_000209.2:n.1515-46215G>A | |
| NM_181798.1:c.1134-46215G>A , LRG_287t2:c.1134-46215G>A | NP_861463.1:n.1134-46215G>A | |
| NM_000218.3:c.1515-46215G>A MANE Select | NP_000209.2:n.1515-46215G>A |