Linked Data
ClinVar Variation Id:
1146548
ClinVar RCV Id:
RCV001485838
dbSNP Id:
rs2104944542
MyVariant Identifiers:
chr2:g.128178927C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127421351C>T , CM000664.2:g.127421351C>T | GRCh38 |
| NC_000002.11:g.128178927C>T , CM000664.1:g.128178927C>T | GRCh37 |
| NC_000002.10:g.127895397C>T | NCBI36 |
| NG_016323.1:g.7932C>T , LRG_599:g.7932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.139C>T MANE Select | ENSP00000234071.4:p.Leu47= | |
| ENST00000234071.7:c.139C>T | ENSP00000234071.3:p.Leu47= | |
| ENST00000409048.1:c.139C>T | ENSP00000386679.1:p.Leu47= | |
| ENST00000419985.5:c.104C>T | ENSP00000392606.1:p.Pro35Leu | |
| ENST00000427769.5:c.139C>T | ENSP00000406295.1:p.Leu47= | |
| ENST00000429925.5:c.139C>T | ENSP00000412697.1:p.Leu47= | |
| ENST00000431364.1:c.104C>T | ENSP00000391220.1:p.Pro35Leu | |
| ENST00000442644.5:c.139C>T | ENSP00000411241.1:p.Leu47= | |
| ENST00000474030.5:n.222C>T | ||
| NM_000312.3:c.139C>T , LRG_599t1:c.139C>T | NP_000303.1:p.Leu47= | |
| XM_005263715.3:c.322C>T | XP_005263772.1:p.Leu108= | |
| XM_005263716.3:c.202C>T | XP_005263773.1:p.Leu68= | |
| XM_005263717.3:c.202C>T | XP_005263774.1:p.Leu68= | |
| XM_005263717.4:c.202C>T | XP_005263774.1:p.Leu68= | |
| XM_017004505.1:c.382C>T | XP_016859994.1:p.Leu128= | |
| XM_024453002.1:c.382C>T | XP_024308770.1:p.Leu128= | |
| XM_024453003.1:c.322C>T | XP_024308771.1:p.Leu108= | |
| XM_024453004.1:c.322C>T | XP_024308772.1:p.Leu108= | |
| XM_024453005.1:c.202C>T | XP_024308773.1:p.Leu68= | |
| XM_024453006.1:c.139C>T | XP_024308774.1:p.Leu47= | |
| NM_000312.4:c.139C>T MANE Select | NP_000303.1:p.Leu47= | |
| NM_001375602.1:c.322C>T | NP_001362531.1:p.Leu108= | |
| NM_001375603.1:c.202C>T | NP_001362532.1:p.Leu68= | |
| NM_001375604.1:c.202C>T | NP_001362533.1:p.Leu68= | |
| NM_001375605.1:c.139C>T | NP_001362534.1:p.Leu47= | |
| NM_001375606.1:c.202C>T | NP_001362535.1:p.Leu68= | |
| NM_001375607.1:c.223C>T | NP_001362536.1:p.Leu75= | |
| NM_001375608.1:c.139C>T | NP_001362537.1:p.Leu47= | |
| NM_001375609.1:c.115C>T | NP_001362538.1:p.Leu39= | |
| NM_001375610.1:c.133C>T | NP_001362539.1:p.Leu45= | |
| NM_001375611.1:c.139C>T | NP_001362540.1:p.Leu47= | |
| NM_001375613.1:c.139C>T | NP_001362542.1:p.Leu47= |