Linked Data
dbSNP Id:
rs1207357544
gnomAD v2:
2-73828500-G-C
gnomAD v3:
2-73601373-G-C
gnomAD v4:
2-73601373-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601373G>C , CM000664.2:g.73601373G>C | GRCh38 |
| NC_000002.11:g.73828500G>C , CM000664.1:g.73828500G>C | GRCh37 |
| NC_000002.10:g.73682008G>C | NCBI36 |
| NG_011690.1:g.220621G>C , LRG_741:g.220621G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11670G>C | ENSP00000507671.1:p.Leu3890= | |
| ENST00000682801.1:c.11167-812G>C | ENSP00000507862.1:n.11167-812G>C | |
| ENST00000682859.1:c.11670G>C | ENSP00000508222.1:p.Leu3890= | |
| ENST00000683791.1:c.4756G>C | ||
| ENST00000684460.1:c.8951G>C | ||
| ENST00000684548.1:c.11670G>C | ENSP00000507421.1:p.Leu3890= | |
| ENST00000684590.1:c.6117G>C | ENSP00000507376.1:p.Leu2039= | |
| ENST00000684656.1:c.9135G>C | ||
| ENST00000613296.6:c.12051G>C MANE Select | ENSP00000482968.1:p.Leu4017= | |
| ENST00000651057.1:c.2205G>C | ENSP00000498504.1:p.Leu735= | |
| ENST00000651434.1:c.3407G>C | ||
| ENST00000651750.1:c.1260+492G>C | ||
| ENST00000652487.1:c.3222G>C | ||
| ENST00000464408.3:n.226G>C | ||
| ENST00000484298.5:c.11925G>C | ENSP00000478155.1:p.Leu3975= | |
| ENST00000613296.4:c.12051G>C | ENSP00000482968.1:p.Leu4017= | |
| ENST00000620466.4:n.5854G>C | ||
| NM_015120.4:c.12054G>C , LRG_741t1:c.12054G>C | NP_055935.4:p.Leu4018= | |
| NM_001378454.1:c.12051G>C MANE Select | NP_001365383.1:p.Leu4017= |