Linked Data
ClinVar Variation Id:
11535
ClinVar RCV Id:
RCV000012291
dbSNP Id:
rs137852819
PubMed:
PMID:19377476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41520446A>G , CM000685.2:g.41520446A>G | GRCh38 |
| NC_000023.10:g.41379699A>G , CM000685.1:g.41379699A>G | GRCh37 |
| NC_000023.9:g.41264643A>G | NCBI36 |
| NG_016754.1:g.407589T>C | |
| NG_016754.2:g.407589T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378154.3:c.2704T>C | ENSP00000367396.2:p.Trp902Arg | |
| ENST00000378158.6:c.2701T>C | ENSP00000367400.2:p.Trp901Arg | |
| ENST00000378163.7:c.2755T>C MANE Select | ENSP00000367405.1:p.Trp919Arg | |
| ENST00000378166.9:c.2653T>C | ENSP00000367408.5:p.Trp885Arg | |
| ENST00000378168.8:c.2758T>C | ENSP00000367410.4:p.Trp920Arg | |
| ENST00000378179.9:c.1375T>C | ENSP00000367421.4:p.Trp459Arg | |
| ENST00000421587.8:c.2686T>C | ENSP00000400526.4:p.Trp896Arg | |
| ENST00000442742.7:c.2617T>C | ENSP00000398007.3:p.Trp873Arg | |
| ENST00000642499.1:n.1534T>C | ||
| ENST00000642641.1:n.914T>C | ||
| ENST00000643733.1:c.554T>C | ||
| ENST00000644219.1:c.2737T>C | ENSP00000495357.1:p.Trp913Arg | |
| ENST00000644347.1:c.2668T>C | ENSP00000494183.1:p.Trp890Arg | |
| ENST00000645566.1:c.2740T>C | ENSP00000494788.1:p.Trp914Arg | |
| ENST00000645937.2:n.2986T>C | ||
| ENST00000645986.2:c.2842T>C | ENSP00000494409.2:p.Trp948Arg | |
| ENST00000646087.2:c.2077T>C | ENSP00000495510.2:p.Trp693Arg | |
| ENST00000646120.2:c.2671T>C | ENSP00000495291.2:p.Trp891Arg | |
| ENST00000675354.1:c.2689T>C | ENSP00000502315.1:p.Trp897Arg | |
| ENST00000378158.5:c.2704T>C | ENSP00000367400.1:p.Trp902Arg | |
| ENST00000378163.5:c.2755T>C | ENSP00000367405.1:p.Trp919Arg | |
| ENST00000378166.8:c.2740T>C | ENSP00000367408.4:p.Trp914Arg | |
| ENST00000378168.6:c.1120T>C | ENSP00000367410.2:p.Trp374Arg | |
| ENST00000378179.7:c.1531T>C | ENSP00000367421.3:p.Trp511Arg | |
| ENST00000421587.6:c.2668T>C | ENSP00000400526.2:p.Trp890Arg | |
| ENST00000442742.6:c.2671T>C | ENSP00000398007.2:p.Trp891Arg | |
| NM_001126054.2:c.2671T>C | NP_001119526.1:p.Trp891Arg | |
| NM_001126055.2:c.2668T>C | NP_001119527.1:p.Trp890Arg | |
| NM_003688.3:c.2740T>C | NP_003679.2:p.Trp914Arg | |
| XM_005272686.3:c.2737T>C | XP_005272743.1:p.Trp913Arg | |
| XM_006724566.2:c.2632T>C | XP_006724629.1:p.Trp878Arg | |
| XM_011543993.1:c.2755T>C | XP_011542295.1:p.Trp919Arg | |
| XM_011543994.1:c.2719T>C | XP_011542296.1:p.Trp907Arg | |
| XM_011543995.1:c.2686T>C | XP_011542297.1:p.Trp896Arg | |
| XM_011543996.1:c.2650T>C | XP_011542298.1:p.Trp884Arg | |
| XM_011543997.1:c.2182T>C | XP_011542299.1:p.Trp728Arg | |
| XM_005272686.4:c.2737T>C | XP_005272743.1:p.Trp913Arg | |
| XM_006724566.3:c.2632T>C | XP_006724629.1:p.Trp878Arg | |
| XM_011543993.2:c.2755T>C | XP_011542295.1:p.Trp919Arg | |
| XM_011543994.2:c.2719T>C | XP_011542296.1:p.Trp907Arg | |
| XM_011543995.2:c.2686T>C | XP_011542297.1:p.Trp896Arg | |
| XM_011543996.2:c.2650T>C | XP_011542298.1:p.Trp884Arg | |
| XM_011543997.3:c.2182T>C | XP_011542299.1:p.Trp728Arg | |
| XM_024452473.1:c.2077T>C | XP_024308241.1:p.Trp693Arg | |
| NM_001367721.1:c.2755T>C MANE Select | NP_001354650.1:p.Trp919Arg |