Linked Data
dbSNP Id:
rs776617400
ExAC:
2:128183714 C / T
gnomAD v2:
2-128183714-C-T
gnomAD v4:
2-127426138-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426138C>T , CM000664.2:g.127426138C>T | GRCh38 |
| NC_000002.11:g.128183714C>T , CM000664.1:g.128183714C>T | GRCh37 |
| NC_000002.10:g.127900184C>T | NCBI36 |
| NG_016323.1:g.12719C>T , LRG_599:g.12719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.589C>T MANE Select | ENSP00000234071.4:p.Leu197= | |
| ENST00000234071.7:c.589C>T | ENSP00000234071.3:p.Leu197= | |
| ENST00000402125.2:c.121-2219C>T | ||
| ENST00000409048.1:c.691C>T | ENSP00000386679.1:p.Leu231= | |
| ENST00000464089.1:n.175C>T | ||
| NM_000312.3:c.589C>T , LRG_599t1:c.589C>T | NP_000303.1:p.Leu197= | |
| XM_005263715.3:c.772C>T | XP_005263772.1:p.Leu258= | |
| XM_005263716.3:c.754C>T | XP_005263773.1:p.Leu252= | |
| XM_005263717.3:c.652C>T | XP_005263774.1:p.Leu218= | |
| XM_005263717.4:c.652C>T | XP_005263774.1:p.Leu218= | |
| XM_017004505.1:c.832C>T | XP_016859994.1:p.Leu278= | |
| XM_024453002.1:c.934C>T | XP_024308770.1:p.Leu312= | |
| XM_024453003.1:c.874C>T | XP_024308771.1:p.Leu292= | |
| XM_024453004.1:c.772C>T | XP_024308772.1:p.Leu258= | |
| XM_024453005.1:c.754C>T | XP_024308773.1:p.Leu252= | |
| XM_024453006.1:c.691C>T | XP_024308774.1:p.Leu231= | |
| XR_923313.2:n.4447G>A | ||
| NM_000312.4:c.589C>T MANE Select | NP_000303.1:p.Leu197= | |
| NM_001375602.1:c.772C>T | NP_001362531.1:p.Leu258= | |
| NM_001375603.1:c.754C>T | NP_001362532.1:p.Leu252= | |
| NM_001375604.1:c.652C>T | NP_001362533.1:p.Leu218= | |
| NM_001375605.1:c.691C>T | NP_001362534.1:p.Leu231= | |
| NM_001375606.1:c.757C>T | NP_001362535.1:p.Leu253= | |
| NM_001375607.1:c.775C>T | NP_001362536.1:p.Leu259= | |
| NM_001375608.1:c.532C>T | NP_001362537.1:p.Leu178= | |
| NM_001375609.1:c.565C>T | NP_001362538.1:p.Leu189= | |
| NM_001375610.1:c.583C>T | NP_001362539.1:p.Leu195= | |
| NM_001375611.1:c.589C>T | NP_001362540.1:p.Leu197= | |
| NM_001375613.1:c.589C>T | NP_001362542.1:p.Leu197= |