Linked Data
dbSNP Id:
rs755232236
ExAC:
2:203397296 C / A
gnomAD v2:
2-203397296-C-A
gnomAD v4:
2-202532573-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202532573C>A , CM000664.2:g.202532573C>A | GRCh38 |
| NC_000002.11:g.203397296C>A , CM000664.1:g.203397296C>A | GRCh37 |
| NC_000002.10:g.203105541C>A | NCBI36 |
| NG_009363.1:g.161247C>A , LRG_712:g.161247C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1129-12C>A MANE Select | ENSP00000363708.4:n.1129-12C>A | |
| ENST00000638587.1:c.1060-12C>A | ENSP00000491062.1:n.1060-12C>A | |
| ENST00000374574.2:c.1129-12C>A | ENSP00000363702.2:n.1129-12C>A | |
| ENST00000374580.8:c.1129-12C>A | ENSP00000363708.4:n.1129-12C>A | |
| NM_001204.6:c.1129-12C>A , LRG_712t1:c.1129-12C>A | NP_001195.2:n.1129-12C>A | |
| XM_011511687.1:c.1129-12C>A | XP_011509989.1:n.1129-12C>A | |
| XM_011511688.1:c.1129-12C>A | XP_011509990.1:n.1129-12C>A | |
| NM_001204.7:c.1129-12C>A MANE Select | NP_001195.2:n.1129-12C>A |