Linked Data
ClinVar Variation Id:
48269
dbSNP Id:
rs141235641
ExAC:
2:26683586 C / T
gnomAD v2:
2-26683586-C-T
gnomAD v3:
2-26460718-C-T
gnomAD v4:
2-26460718-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26460718C>T , CM000664.2:g.26460718C>T | GRCh38 |
| NC_000002.11:g.26683586C>T , CM000664.1:g.26683586C>T | GRCh37 |
| NC_000002.10:g.26537090C>T | NCBI36 |
| NG_009937.1:g.102981G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.5742G>A MANE Select | ENSP00000272371.2:p.Leu1914= | |
| ENST00000339598.8:c.3441G>A MANE Plus Clinical | ENSP00000344521.3:p.Leu1147= | |
| ENST00000402415.8:c.3501G>A | ENSP00000383906.4:p.Leu1167= | |
| ENST00000272371.6:c.5742G>A | ENSP00000272371.2:p.Leu1914= | |
| ENST00000338581.10:c.3441G>A | ENSP00000345137.6:p.Leu1147= | |
| ENST00000339598.7:c.3441G>A | ENSP00000344521.3:p.Leu1147= | |
| ENST00000402415.7:c.3672G>A | ENSP00000383906.3:p.Leu1224= | |
| ENST00000403946.7:c.5742G>A | ENSP00000385255.3:p.Leu1914= | |
| NM_001287489.1:c.5742G>A | NP_001274418.1:p.Leu1914= | |
| NM_004802.3:c.3441G>A | NP_004793.2:p.Leu1147= | |
| NM_194248.2:c.5742G>A | NP_919224.1:p.Leu1914= | |
| NM_194322.2:c.3672G>A | NP_919303.1:p.Leu1224= | |
| NM_194323.2:c.3441G>A | NP_919304.1:p.Leu1147= | |
| XM_005264644.2:c.5727G>A | XP_005264701.1:p.Leu1909= | |
| XM_011533185.1:c.5787G>A | XP_011531487.1:p.Leu1929= | |
| XM_017005338.1:c.5682G>A | XP_016860827.1:p.Leu1894= | |
| NM_001287489.2:c.5742G>A | NP_001274418.1:p.Leu1914= | |
| NM_004802.4:c.3441G>A | NP_004793.2:p.Leu1147= | |
| NM_194248.3:c.5742G>A MANE Select | NP_919224.1:p.Leu1914= | |
| NM_194322.3:c.3672G>A | NP_919303.1:p.Leu1224= | |
| NM_194323.3:c.3441G>A MANE Plus Clinical | NP_919304.1:p.Leu1147= |