Linked Data
ClinVar Variation Id:
468269
dbSNP Id:
rs371241720
ExAC:
2:74592719 G / C
gnomAD v2:
2-74592719-G-C
gnomAD v3:
2-74365592-G-C
gnomAD v4:
2-74365592-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74365592G>C , CM000664.2:g.74365592G>C | GRCh38 |
| NC_000002.11:g.74592719G>C , CM000664.1:g.74592719G>C | GRCh37 |
| NC_000002.10:g.74446227G>C | NCBI36 |
| NG_008735.2:g.31496C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.2952C>G | ENSP00000354791.4:p.Ala984= | |
| ENST00000628224.3:c.2952C>G MANE Select | ENSP00000487279.2:p.Ala984= | |
| ENST00000680606.1:c.2901C>G | ENSP00000505612.1:p.Ala967= | |
| ENST00000361874.7:c.2952C>G | ENSP00000354791.3:p.Ala984= | |
| ENST00000394003.7:c.2931C>G | ENSP00000377571.3:p.Ala977= | |
| ENST00000409240.5:c.2841C>G | ENSP00000386406.1:p.Ala947= | |
| ENST00000409438.5:c.2550C>G | ENSP00000387270.1:p.Ala850= | |
| ENST00000409567.7:c.2892C>G | ENSP00000386843.3:p.Ala964= | |
| ENST00000409868.5:c.2901C>G | ENSP00000387327.1:p.Ala967= | |
| ENST00000434055.5:c.*251C>G | ENSP00000416711.1:n.*251C>G | |
| ENST00000466110.5:n.3931C>G | ||
| ENST00000495895.1:n.368C>G | ||
| ENST00000497666.1:n.96+3708C>G | ||
| ENST00000628224.2:c.2901C>G | ENSP00000487279.1:p.Ala967= | |
| ENST00000633691.1:c.2550C>G | ENSP00000487724.1:p.Ala850= | |
| NM_001135040.2:c.2892C>G | NP_001128512.1:p.Ala964= | |
| NM_001135041.2:c.2550C>G | NP_001128513.1:p.Ala850= | |
| NM_001190836.1:c.2841C>G | NP_001177765.1:p.Ala947= | |
| NM_001190837.1:c.2931C>G | NP_001177766.1:p.Ala977= | |
| NM_004082.4:c.2952C>G | NP_004073.2:p.Ala984= | |
| NM_023019.3:c.2550C>G | NP_075408.1:p.Ala850= | |
| NR_033935.1:n.3236C>G | ||
| NM_001135040.3:c.2892C>G | NP_001128512.1:p.Ala964= | |
| NM_001135041.3:c.2550C>G | NP_001128513.1:p.Ala850= | |
| NM_001190836.2:c.2841C>G | NP_001177765.1:p.Ala947= | |
| NM_001190837.2:c.2931C>G | NP_001177766.1:p.Ala977= | |
| NM_001378991.1:c.2901C>G | NP_001365920.1:p.Ala967= | |
| NM_001378992.1:c.2883C>G | NP_001365921.1:p.Ala961= | |
| NM_004082.5:c.2952C>G MANE Select | NP_004073.2:p.Ala984= | |
| NM_023019.4:c.2550C>G | NP_075408.1:p.Ala850= | |
| NR_033935.2:n.3015C>G |