Linked Data
ClinVar Variation Id:
245638
dbSNP Id:
rs748017885
ExAC:
16:11643501 G / A
gnomAD v2:
16-11643501-G-A
gnomAD v3:
16-11549645-G-A
gnomAD v4:
16-11549645-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11549645G>A , CM000678.2:g.11549645G>A | GRCh38 |
| NC_000016.9:g.11643501G>A , CM000678.1:g.11643501G>A | GRCh37 |
| NC_000016.8:g.11551002G>A | NCBI36 |
| NG_009008.1:g.42306C>T , LRG_253:g.42306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622633.5:c.478C>T MANE Select | ENSP00000483114.1:p.Arg160Cys | |
| ENST00000339430.9:c.478C>T | ENSP00000340118.5:p.Arg160Cys | |
| ENST00000381810.7:c.479C>T | ENSP00000371231.3:p.Ala160Val | |
| ENST00000413364.6:c.*117C>T | ENSP00000397958.2:n.*117C>T | |
| ENST00000570904.5:c.478C>T | ENSP00000459138.1:p.Arg160Cys | |
| ENST00000571459.5:c.*93C>T | ENSP00000459603.1:n.*93C>T | |
| ENST00000571688.5:c.478C>T | ENSP00000459533.1:p.Arg160Cys | |
| ENST00000572255.5:c.199C>T | ENSP00000458836.1:p.Arg67Cys | |
| ENST00000573332.5:c.*291C>T | ENSP00000460873.1:n.*291C>T | |
| ENST00000574763.5:c.478C>T | ENSP00000461813.1:p.Arg160Cys | |
| ENST00000575426.1:c.297C>T | ||
| ENST00000576036.5:c.478C>T | ENSP00000461667.1:p.Arg160Cys | |
| ENST00000622633.4:c.478C>T | ENSP00000483114.1:p.Arg160Cys | |
| NM_001136472.1:c.478C>T | NP_001129944.1:p.Arg160Cys | |
| NM_001136473.1:c.*117C>T , LRG_253t1:c.*117C>T | NP_001129945.1:n.*117C>T | |
| NM_004862.3:c.478C>T | NP_004853.2:p.Arg160Cys | |
| NR_024320.1:n.612C>T | ||
| XM_006720982.2:c.478C>T | XP_006721045.1:p.Arg160Cys | |
| XM_006720983.2:c.478C>T | XP_006721046.1:p.Arg160Cys | |
| XM_006720984.2:c.478C>T | XP_006721047.1:p.Arg160Cys | |
| XM_006720985.2:c.478C>T | XP_006721048.1:p.Arg160Cys | |
| XM_011522754.1:c.568C>T | XP_011521056.1:p.Arg190Cys | |
| XM_006720982.3:c.478C>T | XP_006721045.1:p.Arg160Cys | |
| XM_006720983.4:c.478C>T | XP_006721046.1:p.Arg160Cys | |
| XM_006720984.4:c.478C>T | XP_006721047.1:p.Arg160Cys | |
| XM_006720985.3:c.478C>T | XP_006721048.1:p.Arg160Cys | |
| XM_011522754.3:c.568C>T | XP_011521056.1:p.Arg190Cys | |
| XM_017023896.1:c.478C>T | XP_016879385.1:p.Arg160Cys | |
| NM_001136472.2:c.478C>T MANE Select | NP_001129944.1:p.Arg160Cys | |
| NM_004862.4:c.478C>T | NP_004853.2:p.Arg160Cys | |
| NR_024320.2:n.612C>T |