Linked Data
dbSNP Id:
rs558294251
gnomAD v2:
22-23915396-C-G
gnomAD v3:
22-23573209-C-G
gnomAD v4:
22-23573209-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23573209C>G , CM000684.2:g.23573209C>G | GRCh38 |
| NC_000022.10:g.23915396C>G , CM000684.1:g.23915396C>G | GRCh37 |
| NC_000022.9:g.22245396C>G | NCBI36 |
| NG_009791.1:g.12100G>C , LRG_69:g.12100G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330377.3:c.*57G>C MANE Select | ENSP00000329312.2:n.*57G>C | |
| ENST00000249053.3:c.*328G>C | ENSP00000249053.3:n.*328G>C | |
| ENST00000330377.2:c.*57G>C | ENSP00000329312.2:n.*57G>C | |
| NM_020070.3:c.*57G>C | NP_064455.1:n.*57G>C | |
| NM_152855.2:c.*328G>C | NP_690594.1:n.*328G>C | |
| XM_011530169.1:c.*57G>C | XP_011528471.1:n.*57G>C | |
| XM_011530169.2:c.*57G>C | XP_011528471.1:n.*57G>C | |
| NM_020070.4:c.*57G>C MANE Select | NP_064455.1:n.*57G>C | |
| NM_001369906.1:c.*57G>C | NP_001356835.1:n.*57G>C | |
| NM_152855.3:c.*328G>C | NP_690594.1:n.*328G>C |