Linked Data
ClinVar Variation Id:
30938
dbSNP Id:
rs185089786
ExAC:
2:166785800 G / A
gnomAD v2:
2-166785800-G-A
gnomAD v3:
2-165929290-G-A
gnomAD v4:
2-165929290-G-A
PubMed:
PMID:21258341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165929290G>A , CM000664.2:g.165929290G>A | GRCh38 |
| NC_000002.11:g.166785800G>A , CM000664.1:g.166785800G>A | GRCh37 |
| NC_000002.10:g.166494046G>A | NCBI36 |
| NG_030345.1:g.29549C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.1231C>T MANE Select | ENSP00000243344.7:p.Arg411Ter | |
| ENST00000652557.1:c.1231C>T | ENSP00000498617.1:p.Arg411Ter | |
| ENST00000679356.1:c.1231C>T | ENSP00000506245.1:p.Arg411Ter | |
| ENST00000679671.1:n.1344C>T | ||
| ENST00000679676.1:c.1120C>T | ENSP00000505492.1:p.Arg374Ter | |
| ENST00000679799.1:c.1231C>T | ENSP00000505208.1:p.Arg411Ter | |
| ENST00000679840.1:c.1231C>T | ENSP00000505248.1:p.Arg411Ter | |
| ENST00000679931.1:c.*273C>T | ENSP00000505632.1:n.*273C>T | |
| ENST00000679967.1:c.1231C>T | ENSP00000506607.1:p.Arg411Ter | |
| ENST00000680225.1:n.490C>T | ||
| ENST00000680327.1:c.*273C>T | ENSP00000506639.1:n.*273C>T | |
| ENST00000680448.1:c.1231C>T | ENSP00000505921.1:p.Arg411Ter | |
| ENST00000680657.1:n.1342C>T | ||
| ENST00000680690.1:c.*483C>T | ENSP00000506121.1:n.*483C>T | |
| ENST00000680888.1:c.1231C>T | ENSP00000506276.1:p.Arg411Ter | |
| ENST00000680947.1:c.*503C>T | ENSP00000506496.1:n.*503C>T | |
| ENST00000681024.1:c.1231C>T | ENSP00000506449.1:p.Arg411Ter | |
| ENST00000681083.1:c.*965C>T | ENSP00000506095.1:n.*965C>T | |
| ENST00000681167.1:n.1105C>T | ||
| ENST00000681483.1:c.1231C>T | ENSP00000505499.1:p.Arg411Ter | |
| ENST00000681502.1:c.*655C>T | ENSP00000505644.1:n.*655C>T | |
| ENST00000681606.1:c.1231C>T | ENSP00000505354.1:p.Arg411Ter | |
| ENST00000681819.1:c.1231C>T | ENSP00000505673.1:p.Arg411Ter | |
| ENST00000681952.1:c.1231C>T | ENSP00000506400.1:p.Arg411Ter | |
| ENST00000243344.7:c.1231C>T | ENSP00000243344.7:p.Arg411Ter | |
| ENST00000464374.5:n.1271C>T | ||
| NM_024753.4:c.1231C>T | NP_079029.3:p.Arg411Ter | |
| XM_006712761.1:c.1231C>T | XP_006712824.1:p.Arg411Ter | |
| XM_011511870.1:c.664C>T | XP_011510172.1:p.Arg222Ter | |
| XM_011511871.1:c.481C>T | XP_011510173.1:p.Arg161Ter | |
| XM_011511872.1:c.1231C>T | XP_011510174.1:p.Arg411Ter | |
| XM_011511871.3:c.481C>T | XP_011510173.1:p.Arg161Ter | |
| XM_011511872.2:c.1231C>T | XP_011510174.1:p.Arg411Ter | |
| XM_017004967.1:c.1231C>T | XP_016860456.1:p.Arg411Ter | |
| XM_017004968.2:c.577C>T | XP_016860457.1:p.Arg193Ter | |
| XM_017004969.1:c.232C>T | XP_016860458.1:p.Arg78Ter | |
| NM_024753.5:c.1231C>T MANE Select | NP_079029.3:p.Arg411Ter |