Linked Data
dbSNP Id:
rs756834308
ExAC:
12:6132946 G / C
gnomAD v2:
12-6132946-G-C
gnomAD v4:
12-6023780-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023780G>C , CM000674.2:g.6023780G>C | GRCh38 |
| NC_000012.11:g.6132946G>C , CM000674.1:g.6132946G>C | GRCh37 |
| NC_000012.10:g.6003207G>C | NCBI36 |
| NG_009072.1:g.105891C>G | |
| NG_009072.2:g.105891C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3230C>G MANE Select | ENSP00000261405.5:p.Pro1077Arg | |
| ENST00000261405.9:c.3230C>G | ENSP00000261405.5:p.Pro1077Arg | |
| ENST00000538635.5:n.421-29846C>G | ||
| NM_000552.3:c.3230C>G | NP_000543.2:p.Pro1077Arg | |
| NM_000552.4:c.3230C>G | NP_000543.2:p.Pro1077Arg | |
| NM_000552.5:c.3230C>G MANE Select | NP_000543.3:p.Pro1077Arg |