Linked Data
ClinVar Variation Id:
2988390
ClinVar RCV Id:
RCV003844573
dbSNP Id:
rs750609040
gnomAD v2:
2-170010983-C-T
gnomAD v3:
2-169154473-C-T
gnomAD v4:
2-169154473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154473C>T , CM000664.2:g.169154473C>T | GRCh38 |
| NC_000002.11:g.170010983C>T , CM000664.1:g.170010983C>T | GRCh37 |
| NC_000002.10:g.169719229C>T | NCBI36 |
| NG_012634.1:g.213140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.12282G>A MANE Select | ENSP00000496870.1:p.Lys4094= | |
| ENST00000649153.1:c.3182G>A | ||
| ENST00000650252.1:c.1310G>A | ENSP00000496887.1:p.Arg437Lys | |
| ENST00000263816.7:c.12282G>A | ENSP00000263816.3:p.Lys4094= | |
| NM_004525.2:c.12282G>A | NP_004516.2:p.Lys4094= | |
| XM_011511183.1:c.12153G>A | XP_011509485.1:p.Lys4051= | |
| XM_011511184.1:c.9993G>A | XP_011509486.1:p.Lys3331= | |
| NM_004525.3:c.12282G>A MANE Select | NP_004516.2:p.Lys4094= | |
| XM_011511183.3:c.12153G>A | XP_011509485.1:p.Lys4051= | |
| XM_011511184.2:c.9993G>A | XP_011509486.1:p.Lys3331= |