Linked Data
dbSNP Id:
rs3873252
ExAC:
6:29796369 A / C
gnomAD v2:
6-29796369-A-C
gnomAD v3:
6-29828592-A-C
gnomAD v4:
6-29828592-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29828592A>C , CM000668.2:g.29828592A>C | GRCh38 |
| NC_000006.11:g.29796369A>C , CM000668.1:g.29796369A>C | GRCh37 |
| NC_000006.10:g.29904348A>C | NCBI36 |
| NG_029039.1:g.6614A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428701.6:n.522-25A>C | ||
| ENST00000360323.11:c.393A>C MANE Select | ENSP00000353472.6:p.Gly131= | |
| ENST00000360323.10:c.393A>C | ENSP00000353472.6:p.Gly131= | |
| ENST00000376815.3:c.343+276A>C | ENSP00000366011.3:n.343+276A>C | |
| ENST00000376818.7:c.343+276A>C | ENSP00000366014.3:n.343+276A>C | |
| ENST00000376828.6:c.408A>C | ENSP00000366024.2:p.Gly136= | |
| ENST00000428701.5:c.393A>C | ENSP00000412927.1:p.Gly131= | |
| ENST00000478355.5:n.393A>C | ||
| ENST00000478519.5:c.343+276A>C | ENSP00000436375.1:n.343+276A>C | |
| NM_002127.5:c.393A>C | NP_002118.1:p.Gly131= | |
| NM_001363567.1:c.408A>C | NP_001350496.1:p.Gly136= | |
| XM_017010817.1:c.343+276A>C | XP_016866306.1:n.343+276A>C | |
| XM_017010818.1:c.343+276A>C | XP_016866307.1:n.343+276A>C | |
| XM_024446420.1:c.393A>C | XP_024302188.1:p.Gly131= | |
| NM_001363567.2:c.408A>C | NP_001350496.1:p.Gly136= | |
| NM_001384280.1:c.408A>C | NP_001371209.1:p.Gly136= | |
| NM_001384290.1:c.393A>C MANE Select | NP_001371219.1:p.Gly131= | |
| NM_002127.6:c.393A>C | NP_002118.1:p.Gly131= |