Linked Data
dbSNP Id:
rs753205934
ExAC:
3:38793821 G / C
gnomAD v2:
3-38793821-G-C
gnomAD v4:
3-38752330-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38752330G>C , CM000665.2:g.38752330G>C | GRCh38 |
| NC_000003.11:g.38793821G>C , CM000665.1:g.38793821G>C | GRCh37 |
| NC_000003.10:g.38768825G>C | NCBI36 |
| NG_031891.2:g.46681C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.1644C>G MANE Select | ENSP00000390600.2:p.Pro548= | |
| ENST00000643924.1:c.1644C>G | ENSP00000495595.1:p.Pro548= | |
| ENST00000655275.1:c.1671C>G | ENSP00000499510.1:p.Pro557= | |
| ENST00000449082.2:c.1644C>G | ENSP00000390600.2:p.Pro548= | |
| NM_001293306.2:c.1644C>G | NP_001280235.2:p.Pro548= | |
| NM_001293307.2:c.1462-2146C>G | NP_001280236.2:n.1462-2146C>G | |
| NM_006514.3:c.1644C>G | NP_006505.3:p.Pro548= | |
| XM_005265371.2:c.1653C>G | XP_005265428.1:p.Pro551= | |
| XM_011533993.1:c.1653C>G | XP_011532295.1:p.Pro551= | |
| XM_011533994.1:c.1471-2146C>G | XP_011532296.1:n.1471-2146C>G | |
| XM_005265371.3:c.1653C>G | XP_005265428.1:p.Pro551= | |
| XM_011533993.2:c.1653C>G | XP_011532295.1:p.Pro551= | |
| XM_011533994.2:c.1471-2146C>G | XP_011532296.1:n.1471-2146C>G | |
| NM_006514.4:c.1644C>G MANE Select | NP_006505.4:p.Pro548= |