Linked Data
dbSNP Id:
rs6332
ExAC:
12:5603632 G / A
gnomAD v2:
12-5603632-G-A
gnomAD v3:
12-5494466-G-A
gnomAD v4:
12-5494466-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5494466G>A , CM000674.2:g.5494466G>A | GRCh38 |
| NC_000012.11:g.5603632G>A , CM000674.1:g.5603632G>A | GRCh37 |
| NC_000012.10:g.5473893G>A | NCBI36 |
| NG_050629.1:g.67353G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423158.4:c.291G>A MANE Select | ENSP00000397297.2:p.Pro97= | |
| ENST00000331010.7:c.252G>A | ENSP00000328738.6:p.Pro84= | |
| ENST00000423158.3:c.291G>A | ENSP00000397297.2:p.Pro97= | |
| ENST00000535299.5:n.232-12099G>A | ||
| ENST00000543548.1:n.481G>A | ||
| NM_001102654.1:c.291G>A | NP_001096124.1:p.Pro97= | |
| NM_002527.4:c.252G>A | NP_002518.1:p.Pro84= | |
| XM_011520963.1:c.252G>A | XP_011519265.1:p.Pro84= | |
| XM_011520963.2:c.252G>A | XP_011519265.1:p.Pro84= | |
| NM_001102654.2:c.291G>A MANE Select | NP_001096124.1:p.Pro97= | |
| NM_002527.5:c.252G>A | NP_002518.1:p.Pro84= |