Linked Data
dbSNP Id:
rs768536644
ExAC:
17:8108169 C / G
gnomAD v2:
17-8108169-C-G
gnomAD v4:
17-8204851-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8204851C>G , CM000679.2:g.8204851C>G | GRCh38 |
| NC_000017.10:g.8108169C>G , CM000679.1:g.8108169C>G | GRCh37 |
| NC_000017.9:g.8048894C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585124.6:c.*20G>C MANE Select | ENSP00000463999.1:n.*20G>C | |
| ENST00000316199.10:c.*20G>C | ENSP00000313950.6:n.*20G>C | |
| ENST00000534871.5:c.*20G>C | ENSP00000443869.1:n.*20G>C | |
| ENST00000585124.5:c.*20G>C | ENSP00000463999.1:n.*20G>C | |
| NM_001256834.1:c.*20G>C | NP_001243763.1:n.*20G>C | |
| NM_001256834.2:c.*20G>C | NP_001243763.1:n.*20G>C | |
| NM_001284526.1:c.*20G>C | NP_001271455.1:n.*20G>C | |
| NM_001313950.1:c.*20G>C | NP_001300879.1:n.*20G>C | |
| NM_001313951.1:c.*20G>C | NP_001300880.1:n.*20G>C | |
| NM_001313952.1:c.*20G>C | NP_001300881.1:n.*20G>C | |
| NM_001313953.1:c.*20G>C | NP_001300882.1:n.*20G>C | |
| NM_001313954.1:c.*20G>C | NP_001300883.1:n.*20G>C | |
| NM_001313955.1:c.*20G>C | NP_001300884.1:n.*20G>C | |
| NM_004217.3:c.*20G>C | NP_004208.2:n.*20G>C | |
| NR_132730.1:n.1035G>C | ||
| NR_132731.1:n.920G>C | ||
| XM_011524070.1:c.*20G>C | XP_011522372.1:n.*20G>C | |
| XM_011524072.1:c.*20G>C | XP_011522374.1:n.*20G>C | |
| XR_934118.1:n.1264G>C | ||
| NM_001313953.2:c.*20G>C | NP_001300882.1:n.*20G>C | |
| XM_011524072.3:c.*20G>C | XP_011522374.1:n.*20G>C | |
| XM_017025307.2:c.*20G>C | XP_016880796.1:n.*20G>C | |
| XM_017025308.2:c.*20G>C | XP_016880797.1:n.*20G>C | |
| XM_017025309.1:c.*20G>C | XP_016880798.1:n.*20G>C | |
| XM_017025310.1:c.*20G>C | XP_016880799.1:n.*20G>C | |
| XM_017025311.1:c.*20G>C | XP_016880800.1:n.*20G>C | |
| NM_004217.4:c.*20G>C MANE Select | NP_004208.2:n.*20G>C | |
| NM_001256834.3:c.*20G>C | NP_001243763.1:n.*20G>C | |
| NM_001284526.2:c.*20G>C | NP_001271455.1:n.*20G>C | |
| NM_001313950.2:c.*20G>C | NP_001300879.1:n.*20G>C | |
| NM_001313952.2:c.*20G>C | NP_001300881.1:n.*20G>C | |
| NM_001313953.3:c.*20G>C | NP_001300882.1:n.*20G>C | |
| NM_001313954.2:c.*20G>C | NP_001300883.1:n.*20G>C | |
| NM_001313955.2:c.*20G>C | NP_001300884.1:n.*20G>C | |
| NR_132730.2:n.984G>C |