Linked Data
dbSNP Id:
rs41554814
ExAC:
6:31239070 G / T
gnomAD v2:
6-31239070-G-T
gnomAD v3:
6-31271293-G-T
gnomAD v4:
6-31271293-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271293G>T , CM000668.2:g.31271293G>T | GRCh38 |
| NC_000006.11:g.31239070G>T , CM000668.1:g.31239070G>T | GRCh37 |
| NC_000006.10:g.31347049G>T | NCBI36 |
| NG_029422.2:g.5839C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.399C>A MANE Select | ENSP00000365402.5:p.Leu133= | |
| ENST00000376228.9:c.399C>A | ENSP00000365402.5:p.Leu133= | |
| ENST00000376237.8:c.382C>A | ENSP00000365412.4:p.Pro128Thr | |
| ENST00000383329.7:c.399C>A | ENSP00000372819.3:p.Leu133= | |
| ENST00000415537.1:c.397C>A | ||
| ENST00000484378.1:n.668C>A | ||
| ENST00000487245.5:n.758C>A | ||
| ENST00000495835.1:n.588C>A | ||
| NM_002117.5:c.399C>A | NP_002108.4:p.Leu133= | |
| NM_002117.6:c.399C>A MANE Select | NP_002108.4:p.Leu133= |