Linked Data
ClinVar Variation Id:
1677377
ClinVar RCV Id:
RCV002223411
dbSNP Id:
rs199469470
gnomAD v3:
2-127426090-T-C
gnomAD v4:
2-127426090-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426090T>C , CM000664.2:g.127426090T>C | GRCh38 |
| NC_000002.11:g.128183666T>C , CM000664.1:g.128183666T>C | GRCh37 |
| NC_000002.10:g.127900136T>C | NCBI36 |
| NG_016323.1:g.12671T>C , LRG_599:g.12671T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.541T>C MANE Select | ENSP00000234071.4:p.Phe181Leu | |
| ENST00000234071.7:c.541T>C | ENSP00000234071.3:p.Phe181Leu | |
| ENST00000402125.2:c.121-2267T>C | ||
| ENST00000409048.1:c.643T>C | ENSP00000386679.1:p.Phe215Leu | |
| ENST00000442644.5:c.484T>C | ENSP00000411241.1:p.Phe162Leu | |
| ENST00000464089.1:n.127T>C | ||
| NM_000312.3:c.541T>C , LRG_599t1:c.541T>C | NP_000303.1:p.Phe181Leu | |
| XM_005263715.3:c.724T>C | XP_005263772.1:p.Phe242Leu | |
| XM_005263716.3:c.706T>C | XP_005263773.1:p.Phe236Leu | |
| XM_005263717.3:c.604T>C | XP_005263774.1:p.Phe202Leu | |
| XM_005263717.4:c.604T>C | XP_005263774.1:p.Phe202Leu | |
| XM_017004505.1:c.784T>C | XP_016859994.1:p.Phe262Leu | |
| XM_024453002.1:c.886T>C | XP_024308770.1:p.Phe296Leu | |
| XM_024453003.1:c.826T>C | XP_024308771.1:p.Phe276Leu | |
| XM_024453004.1:c.724T>C | XP_024308772.1:p.Phe242Leu | |
| XM_024453005.1:c.706T>C | XP_024308773.1:p.Phe236Leu | |
| XM_024453006.1:c.643T>C | XP_024308774.1:p.Phe215Leu | |
| XR_923313.2:n.4495A>G | ||
| NM_000312.4:c.541T>C MANE Select | NP_000303.1:p.Phe181Leu | |
| NM_001375602.1:c.724T>C | NP_001362531.1:p.Phe242Leu | |
| NM_001375603.1:c.706T>C | NP_001362532.1:p.Phe236Leu | |
| NM_001375604.1:c.604T>C | NP_001362533.1:p.Phe202Leu | |
| NM_001375605.1:c.643T>C | NP_001362534.1:p.Phe215Leu | |
| NM_001375606.1:c.709T>C | NP_001362535.1:p.Phe237Leu | |
| NM_001375607.1:c.727T>C | NP_001362536.1:p.Phe243Leu | |
| NM_001375608.1:c.484T>C | NP_001362537.1:p.Phe162Leu | |
| NM_001375609.1:c.517T>C | NP_001362538.1:p.Phe173Leu | |
| NM_001375610.1:c.535T>C | NP_001362539.1:p.Phe179Leu | |
| NM_001375611.1:c.541T>C | NP_001362540.1:p.Phe181Leu | |
| NM_001375613.1:c.541T>C | NP_001362542.1:p.Phe181Leu |