Linked Data
dbSNP Id:
rs1330950877
gnomAD v2:
12-80752522-G-C
gnomAD v3:
12-80358742-G-C
gnomAD v4:
12-80358742-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80358742G>C , CM000674.2:g.80358742G>C | GRCh38 |
| NC_000012.11:g.80752522G>C , CM000674.1:g.80752522G>C | GRCh37 |
| NC_000012.10:g.79276653G>C | NCBI36 |
| NG_033008.1:g.154290G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.6193G>C MANE Select | ENSP00000447211.2:p.Val2065Leu | |
| ENST00000642294.1:c.133G>C | ENSP00000493572.1:p.Val45Leu | |
| ENST00000646859.1:c.6058G>C | ENSP00000496036.1:p.Val2020Leu | |
| ENST00000298820.7:c.1494G>C | ||
| ENST00000458043.6:c.6166G>C | ENSP00000400895.2:p.Val2056Leu | |
| ENST00000546620.5:n.449G>C | ||
| ENST00000547103.5:c.6130G>C | ENSP00000447211.1:p.Val2044Leu | |
| ENST00000550182.2:c.217G>C | ENSP00000449641.1:p.Val73Leu | |
| ENST00000551340.5:c.321G>C | ||
| NM_173591.3:c.6166G>C | NP_775862.3:p.Val2056Leu | |
| XM_005268802.2:c.6217G>C | XP_005268859.1:p.Val2073Leu | |
| XM_011538191.1:c.6217G>C | XP_011536493.1:p.Val2073Leu | |
| XM_011538192.1:c.6064G>C | XP_011536494.1:p.Val2022Leu | |
| XM_011538193.1:c.5851G>C | XP_011536495.1:p.Val1951Leu | |
| XM_005268802.3:c.6217G>C | XP_005268859.1:p.Val2073Leu | |
| XM_011538192.2:c.6064G>C | XP_011536494.1:p.Val2022Leu | |
| NM_001368062.1:c.6031G>C | NP_001354991.1:p.Val2011Leu | |
| NM_001368062.3:c.6058G>C | NP_001354991.2:p.Val2020Leu | |
| NM_001378609.3:c.6193G>C MANE Select | NP_001365538.2:p.Val2065Leu | |
| NM_001378610.3:c.6193G>C | NP_001365539.2:p.Val2065Leu | |
| NM_173591.7:c.6193G>C | NP_775862.4:p.Val2065Leu |