Linked Data
ClinVar Variation Id:
219188
dbSNP Id:
rs864321622
gnomAD v2:
2-210737641-C-T
gnomAD v4:
2-209872917-C-T
PubMed:
PMID:26708753
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.209872917C>T , CM000664.2:g.209872917C>T | GRCh38 |
| NC_000002.11:g.210737641C>T , CM000664.1:g.210737641C>T | GRCh37 |
| NC_000002.10:g.210445886C>T | NCBI36 |
| NG_051361.1:g.105993C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673920.1:c.3787C>T MANE Select | ENSP00000501211.1:p.Arg1263Ter | |
| ENST00000673951.1:c.3787C>T | ENSP00000501012.1:p.Arg1263Ter | |
| ENST00000272845.10:c.3778C>T | ENSP00000272845.5:p.Arg1260Ter | |
| ENST00000439458.5:c.3793C>T | ENSP00000391088.1:p.Arg1265Ter | |
| ENST00000489023.5:n.1318C>T | ||
| NM_032504.1:c.3793C>T | NP_115893.1:p.Arg1265Ter | |
| NM_182587.3:c.3778C>T | NP_872393.3:p.Arg1260Ter | |
| XM_005246476.1:c.3787C>T | XP_005246533.1:p.Arg1263Ter | |
| XM_011511004.1:c.3793C>T | XP_011509306.1:p.Arg1265Ter | |
| XM_011511005.1:c.3793C>T | XP_011509307.1:p.Arg1265Ter | |
| XM_011511006.1:c.3787C>T | XP_011509308.1:p.Arg1263Ter | |
| XM_011511007.1:c.3793C>T | XP_011509309.1:p.Arg1265Ter | |
| XM_011511008.1:c.3793C>T | XP_011509310.1:p.Arg1265Ter | |
| XM_011511009.1:c.3793C>T | XP_011509311.1:p.Arg1265Ter | |
| XM_011511010.1:c.3793C>T | XP_011509312.1:p.Arg1265Ter | |
| XM_011511011.1:c.3793C>T | XP_011509313.1:p.Arg1265Ter | |
| XM_011511012.1:c.3793C>T | XP_011509314.1:p.Arg1265Ter | |
| XM_011511010.2:c.3793C>T | XP_011509312.1:p.Arg1265Ter | |
| XM_017003884.1:c.3778C>T | XP_016859373.1:p.Arg1260Ter | |
| XM_017003885.1:c.3787C>T | XP_016859374.1:p.Arg1263Ter | |
| XM_017003886.1:c.3793C>T | XP_016859375.1:p.Arg1265Ter | |
| XM_017003887.1:c.3793C>T | XP_016859376.1:p.Arg1265Ter | |
| XM_017003888.1:c.3787C>T | XP_016859377.1:p.Arg1263Ter | |
| XM_017003889.1:c.3787C>T | XP_016859378.1:p.Arg1263Ter | |
| XM_017003890.1:c.3772C>T | XP_016859379.1:p.Arg1258Ter | |
| XM_017003891.1:c.3439C>T | XP_016859380.1:p.Arg1147Ter | |
| XM_017003892.1:c.1276C>T | XP_016859381.1:p.Arg426Ter | |
| XM_017003893.1:c.3793C>T | XP_016859382.1:p.Arg1265Ter | |
| XR_002959283.1:n.3873C>T | ||
| NM_001371986.1:c.3787C>T MANE Select | NP_001358915.1:p.Arg1263Ter | |
| NM_182587.4:c.3778C>T | NP_872393.3:p.Arg1260Ter | |
| NM_032504.2:c.3793C>T | NP_115893.1:p.Arg1265Ter |