Linked Data
dbSNP Id:
rs578179119
ExAC:
2:170115641 A / G
gnomAD v2:
2-170115641-A-G
gnomAD v3:
2-169259131-A-G
gnomAD v4:
2-169259131-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169259131A>G , CM000664.2:g.169259131A>G | GRCh38 |
| NC_000002.11:g.170115641A>G , CM000664.1:g.170115641A>G | GRCh37 |
| NC_000002.10:g.169823887A>G | NCBI36 |
| NG_012634.1:g.108482T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.2407T>C MANE Select | ENSP00000496870.1:p.Ser803Pro | |
| ENST00000263816.7:c.2407T>C | ENSP00000263816.3:p.Ser803Pro | |
| ENST00000443831.1:c.1996T>C | ENSP00000409813.1:p.Ser666Pro | |
| NM_004525.2:c.2407T>C | NP_004516.2:p.Ser803Pro | |
| XM_011511183.1:c.2407T>C | XP_011509485.1:p.Ser803Pro | |
| XM_011511184.1:c.118T>C | XP_011509486.1:p.Ser40Pro | |
| XM_011511185.1:c.2407T>C | XP_011509487.1:p.Ser803Pro | |
| NM_004525.3:c.2407T>C MANE Select | NP_004516.2:p.Ser803Pro | |
| XM_011511183.3:c.2407T>C | XP_011509485.1:p.Ser803Pro | |
| XM_011511184.2:c.118T>C | XP_011509486.1:p.Ser40Pro |