Linked Data
dbSNP Id:
rs12722477
ExAC:
6:29796376 C / A
gnomAD v2:
6-29796376-C-A
gnomAD v3:
6-29828599-C-A
gnomAD v4:
6-29828599-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29828599C>A , CM000668.2:g.29828599C>A | GRCh38 |
| NC_000006.11:g.29796376C>A , CM000668.1:g.29796376C>A | GRCh37 |
| NC_000006.10:g.29904355C>A | NCBI36 |
| NG_029039.1:g.6621C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000428701.6:n.522-18C>A | ||
| ENST00000360323.11:c.400C>A MANE Select | ENSP00000353472.6:p.Leu134Ile | |
| ENST00000360323.10:c.400C>A | ENSP00000353472.6:p.Leu134Ile | |
| ENST00000376815.3:c.343+283C>A | ENSP00000366011.3:n.343+283C>A | |
| ENST00000376818.7:c.343+283C>A | ENSP00000366014.3:n.343+283C>A | |
| ENST00000376828.6:c.415C>A | ENSP00000366024.2:p.Leu139Ile | |
| ENST00000428701.5:c.400C>A | ENSP00000412927.1:p.Leu134Ile | |
| ENST00000478355.5:n.400C>A | ||
| ENST00000478519.5:c.343+283C>A | ENSP00000436375.1:n.343+283C>A | |
| NM_002127.5:c.400C>A | NP_002118.1:p.Leu134Ile | |
| NM_001363567.1:c.415C>A | NP_001350496.1:p.Leu139Ile | |
| XM_017010817.1:c.343+283C>A | XP_016866306.1:n.343+283C>A | |
| XM_017010818.1:c.343+283C>A | XP_016866307.1:n.343+283C>A | |
| XM_024446420.1:c.400C>A | XP_024302188.1:p.Leu134Ile | |
| NM_001363567.2:c.415C>A | NP_001350496.1:p.Leu139Ile | |
| NM_001384280.1:c.415C>A | NP_001371209.1:p.Leu139Ile | |
| NM_001384290.1:c.400C>A MANE Select | NP_001371219.1:p.Leu134Ile | |
| NM_002127.6:c.400C>A | NP_002118.1:p.Leu134Ile |