Linked Data
dbSNP Id:
rs12732361
gnomAD v2:
1-190446806-G-C
gnomAD v3:
1-190477676-G-C
gnomAD v4:
1-190477676-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.190477676G>C , CM000663.2:g.190477676G>C | GRCh38 |
| NC_000001.10:g.190446806G>C , CM000663.1:g.190446806G>C | GRCh37 |
| NC_000001.9:g.188713429G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367462.5:c.-279C>G MANE Select | ENSP00000356432.3:n.-279C>G | |
| ENST00000367462.4:c.-279C>G | ENSP00000356432.3:n.-279C>G | |
| ENST00000633243.1:n.402-95C>G | ||
| XM_005245117.1:c.-184-95C>G | XP_005245174.1:n.-184-95C>G | |
| XM_011509473.1:c.-505-95C>G | XP_011507775.1:n.-505-95C>G | |
| XM_011509474.1:c.-299-95C>G | XP_011507776.1:n.-299-95C>G | |
| NM_199051.2:c.-279C>G | NP_950252.1:n.-279C>G | |
| XM_017001127.1:c.-394C>G | XP_016856616.1:n.-394C>G | |
| XM_017001129.1:c.-394C>G | XP_016856618.1:n.-394C>G | |
| NM_199051.3:c.-279C>G MANE Select | NP_950252.1:n.-279C>G |