Linked Data
dbSNP Id:
rs1710
gnomAD v2:
6-29798617-G-C
gnomAD v3:
6-29830840-G-C
gnomAD v4:
6-29830840-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29830840G>C , CM000668.2:g.29830840G>C | GRCh38 |
| NC_000006.11:g.29798617G>C , CM000668.1:g.29798617G>C | GRCh37 |
| NC_000006.10:g.29906596G>C | NCBI36 |
| NG_029039.1:g.8862G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360323.11:c.*101G>C MANE Select | ENSP00000353472.6:n.*101G>C | |
| ENST00000360323.10:c.*101G>C | ENSP00000353472.6:n.*101G>C | |
| ENST00000376815.3:c.566G>C | ENSP00000366011.3:n.566G>C | |
| ENST00000376818.7:c.842G>C | ENSP00000366014.3:n.842G>C | |
| ENST00000376828.6:c.*101G>C | ENSP00000366024.2:n.*101G>C | |
| ENST00000428701.5:c.*101G>C | ENSP00000412927.1:n.*101G>C | |
| ENST00000478355.5:n.1240G>C | ||
| ENST00000478519.5:c.890G>C | ENSP00000436375.1:n.890G>C | |
| NM_002127.5:c.*101G>C | NP_002118.1:n.*101G>C | |
| NM_001363567.1:c.*101G>C | NP_001350496.1:n.*101G>C | |
| XM_017010817.1:c.*101G>C | XP_016866306.1:n.*101G>C | |
| NM_001363567.2:c.*101G>C | NP_001350496.1:n.*101G>C | |
| NM_001384280.1:c.*101G>C | NP_001371209.1:n.*101G>C | |
| NM_001384290.1:c.*101G>C MANE Select | NP_001371219.1:n.*101G>C | |
| NM_002127.6:c.*101G>C | NP_002118.1:n.*101G>C |