Linked Data
ClinVar Variation Id:
664
ClinVar RCV Id:
RCV000000699
dbSNP Id:
rs121918148
PubMed:
PMID:1347706
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127421397A>C , CM000664.2:g.127421397A>C | GRCh38 |
| NC_000002.11:g.128178973A>C , CM000664.1:g.128178973A>C | GRCh37 |
| NC_000002.10:g.127895443A>C | NCBI36 |
| NG_016323.1:g.7978A>C , LRG_599:g.7978A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.185A>C MANE Select | ENSP00000234071.4:p.Glu62Ala | |
| ENST00000234071.7:c.185A>C | ENSP00000234071.3:p.Glu62Ala | |
| ENST00000409048.1:c.185A>C | ENSP00000386679.1:p.Glu62Ala | |
| ENST00000419985.5:c.150A>C | ENSP00000392606.1:p.Gly50= | |
| ENST00000427769.5:c.185A>C | ENSP00000406295.1:p.Glu62Ala | |
| ENST00000429925.5:c.185A>C | ENSP00000412697.1:p.Glu62Ala | |
| ENST00000431364.1:c.150A>C | ENSP00000391220.1:p.Gly50= | |
| ENST00000442644.5:c.185A>C | ENSP00000411241.1:p.Glu62Ala | |
| ENST00000474030.5:n.268A>C | ||
| NM_000312.3:c.185A>C , LRG_599t1:c.185A>C | NP_000303.1:p.Glu62Ala | |
| XM_005263715.3:c.368A>C | XP_005263772.1:p.Glu123Ala | |
| XM_005263716.3:c.248A>C | XP_005263773.1:p.Glu83Ala | |
| XM_005263717.3:c.248A>C | XP_005263774.1:p.Glu83Ala | |
| XM_005263717.4:c.248A>C | XP_005263774.1:p.Glu83Ala | |
| XM_017004505.1:c.428A>C | XP_016859994.1:p.Glu143Ala | |
| XM_024453002.1:c.428A>C | XP_024308770.1:p.Glu143Ala | |
| XM_024453003.1:c.368A>C | XP_024308771.1:p.Glu123Ala | |
| XM_024453004.1:c.368A>C | XP_024308772.1:p.Glu123Ala | |
| XM_024453005.1:c.248A>C | XP_024308773.1:p.Glu83Ala | |
| XM_024453006.1:c.185A>C | XP_024308774.1:p.Glu62Ala | |
| NM_000312.4:c.185A>C MANE Select | NP_000303.1:p.Glu62Ala | |
| NM_001375602.1:c.368A>C | NP_001362531.1:p.Glu123Ala | |
| NM_001375603.1:c.248A>C | NP_001362532.1:p.Glu83Ala | |
| NM_001375604.1:c.248A>C | NP_001362533.1:p.Glu83Ala | |
| NM_001375605.1:c.185A>C | NP_001362534.1:p.Glu62Ala | |
| NM_001375606.1:c.248A>C | NP_001362535.1:p.Glu83Ala | |
| NM_001375607.1:c.269A>C | NP_001362536.1:p.Glu90Ala | |
| NM_001375608.1:c.185A>C | NP_001362537.1:p.Glu62Ala | |
| NM_001375609.1:c.161A>C | NP_001362538.1:p.Glu54Ala | |
| NM_001375610.1:c.179A>C | NP_001362539.1:p.Glu60Ala | |
| NM_001375611.1:c.185A>C | NP_001362540.1:p.Glu62Ala | |
| NM_001375613.1:c.185A>C | NP_001362542.1:p.Glu62Ala |