Linked Data
dbSNP Id:
rs780644449
ExAC:
3:186459846 C / G
gnomAD v2:
3-186459846-C-G
gnomAD v4:
3-186742057-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186742057C>G , CM000665.2:g.186742057C>G | GRCh38 |
| NC_000003.11:g.186459846C>G , CM000665.1:g.186459846C>G | GRCh37 |
| NC_000003.10:g.187942540C>G | NCBI36 |
| NG_016009.1:g.29749C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287611.8:c.1203+458C>G | ENSP00000287611.2:n.1203+458C>G | |
| ENST00000644859.2:c.1661C>G MANE Select | ENSP00000493985.1:p.Pro554Arg | |
| ENST00000265023.8:c.1661C>G | ENSP00000265023.4:p.Pro554Arg | |
| ENST00000287611.6:c.1203+458C>G | ENSP00000287611.2:n.1203+458C>G | |
| ENST00000447445.1:c.1095+458C>G | ENSP00000396025.1:n.1095+458C>G | |
| NM_000893.3:c.1203+458C>G | NP_000884.1:n.1203+458C>G | |
| NM_001102416.2:c.1661C>G | NP_001095886.1:p.Pro554Arg | |
| NM_001166451.1:c.1095+458C>G | NP_001159923.1:n.1095+458C>G | |
| NM_000893.4:c.1203+458C>G | NP_000884.1:n.1203+458C>G | |
| NM_001102416.3:c.1661C>G MANE Select | NP_001095886.1:p.Pro554Arg | |
| NM_001166451.2:c.1095+458C>G | NP_001159923.1:n.1095+458C>G |