Linked Data
dbSNP Id:
rs1218698250
gnomAD v2:
9-137300044-C-G
gnomAD v3:
9-134408198-C-G
gnomAD v4:
9-134408198-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408198C>G , CM000671.2:g.134408198C>G | GRCh38 |
| NC_000009.11:g.137300044C>G , CM000671.1:g.137300044C>G | GRCh37 |
| NC_000009.10:g.136439865C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.329C>G MANE Select | ENSP00000419692.1:p.Pro110Arg | |
| ENST00000672570.1:c.248C>G | ENSP00000500402.1:p.Pro83Arg | |
| ENST00000356384.4:n.739C>G | ||
| ENST00000481739.1:c.329C>G | ENSP00000419692.1:p.Pro110Arg | |
| NM_001291920.1:c.248C>G | NP_001278849.1:p.Pro83Arg | |
| NM_001291921.1:c.38C>G | NP_001278850.1:p.Pro13Arg | |
| NM_002957.5:c.329C>G | NP_002948.1:p.Pro110Arg | |
| NM_002957.6:c.329C>G MANE Select | NP_002948.1:p.Pro110Arg | |
| NM_001291921.2:c.38C>G | NP_001278850.1:p.Pro13Arg | |
| NM_001291920.2:c.248C>G | NP_001278849.1:p.Pro83Arg |