Linked Data
dbSNP Id:
rs41272833
ExAC:
2:189858209 G / A
gnomAD v2:
2-189858209-G-A
gnomAD v3:
2-188993483-G-A
gnomAD v4:
2-188993483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188993483G>A , CM000664.2:g.188993483G>A | GRCh38 |
| NC_000002.11:g.189858209G>A , CM000664.1:g.189858209G>A | GRCh37 |
| NC_000002.10:g.189566454G>A | NCBI36 |
| NG_007404.1:g.24111G>A , LRG_3:g.24111G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1050+543G>A | ENSP00000415346.2:n.1050+543G>A | |
| ENST00000304636.9:c.1149+24G>A MANE Select | ENSP00000304408.4:n.1149+24G>A | |
| ENST00000304636.7:c.1149+24G>A | ENSP00000304408.3:n.1149+24G>A | |
| ENST00000317840.9:c.1149+24G>A | ENSP00000315243.6:n.1149+24G>A | |
| ENST00000450867.1:c.148+543G>A | ||
| NM_000090.3:c.1149+24G>A , LRG_3t1:c.1149+24G>A | NP_000081.1:n.1149+24G>A | |
| NM_000090.4:c.1149+24G>A MANE Select | NP_000081.2:n.1149+24G>A |