Linked Data
dbSNP Id:
rs759031742
ExAC:
3:38766685 C / G
gnomAD v2:
3-38766685-C-G
gnomAD v4:
3-38725194-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38725194C>G , CM000665.2:g.38725194C>G | GRCh38 |
| NC_000003.11:g.38766685C>G , CM000665.1:g.38766685C>G | GRCh37 |
| NC_000003.10:g.38741689C>G | NCBI36 |
| NG_031891.2:g.73817G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3208G>C MANE Select | ENSP00000390600.2:p.Val1070Leu | |
| ENST00000643924.1:c.3205G>C | ENSP00000495595.1:p.Val1069Leu | |
| ENST00000655275.1:c.3232G>C | ENSP00000499510.1:p.Val1078Leu | |
| ENST00000449082.2:c.3208G>C | ENSP00000390600.2:p.Val1070Leu | |
| NM_001293306.2:c.3205G>C | NP_001280235.2:p.Val1069Leu | |
| NM_001293307.2:c.2914G>C | NP_001280236.2:p.Val972Leu | |
| NM_006514.3:c.3208G>C | NP_006505.3:p.Val1070Leu | |
| XM_005265371.2:c.3217G>C | XP_005265428.1:p.Val1073Leu | |
| XM_011533993.1:c.3214G>C | XP_011532295.1:p.Val1072Leu | |
| XM_011533994.1:c.2923G>C | XP_011532296.1:p.Val975Leu | |
| XM_005265371.3:c.3217G>C | XP_005265428.1:p.Val1073Leu | |
| XM_011533993.2:c.3214G>C | XP_011532295.1:p.Val1072Leu | |
| XM_011533994.2:c.2923G>C | XP_011532296.1:p.Val975Leu | |
| NM_006514.4:c.3208G>C MANE Select | NP_006505.4:p.Val1070Leu |