Linked Data
ClinVar Variation Id:
143126
dbSNP Id:
rs527236117
gnomAD v2:
6-35479425-C-T
gnomAD v4:
6-35511648-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35511648C>T , CM000668.2:g.35511648C>T | GRCh38 |
| NC_000006.11:g.35479425C>T , CM000668.1:g.35479425C>T | GRCh37 |
| NC_000006.10:g.35587403C>T | NCBI36 |
| NG_009077.1:g.6223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.349G>A MANE Select | ENSP00000229771.6:p.Glu117Lys | |
| ENST00000229771.10:c.349G>A | ENSP00000229771.6:p.Glu117Lys | |
| ENST00000322263.8:c.190+532G>A | ENSP00000319414.4:n.190+532G>A | |
| ENST00000373892.4:n.320G>A | ||
| ENST00000428978.1:c.190+532G>A | ENSP00000406765.1:n.190+532G>A | |
| ENST00000448446.2:n.254G>A | ||
| ENST00000614066.4:c.349G>A | ENSP00000477534.1:p.Glu117Lys | |
| NM_001289395.1:c.190+532G>A | NP_001276324.1:n.190+532G>A | |
| NM_003322.4:c.349G>A | NP_003313.3:p.Glu117Lys | |
| NM_003322.5:c.349G>A | NP_003313.3:p.Glu117Lys | |
| NM_003322.6:c.349G>A MANE Select | NP_003313.3:p.Glu117Lys | |
| NM_001289395.2:c.190+532G>A | NP_001276324.1:n.190+532G>A |