Linked Data
ClinVar Variation Id:
1945110
dbSNP Id:
rs368467579
ExAC:
6:129571257 C / T
gnomAD v2:
6-129571257-C-T
gnomAD v3:
6-129250112-C-T
gnomAD v4:
6-129250112-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129250112C>T , CM000668.2:g.129250112C>T | GRCh38 |
| NC_000006.11:g.129571257C>T , CM000668.1:g.129571257C>T | GRCh37 |
| NC_000006.10:g.129612950C>T | NCBI36 |
| NG_008678.1:g.371972C>T , LRG_409:g.371972C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617695.5:c.1783C>T | ENSP00000481744.2:p.Leu595Phe | |
| ENST00000618192.5:c.1783C>T | ENSP00000480802.2:p.Leu595Phe | |
| ENST00000421865.3:c.1783C>T MANE Select | ENSP00000400365.2:p.Leu595Phe | |
| ENST00000421865.2:c.1783C>T | ENSP00000400365.2:p.Leu595Phe | |
| ENST00000617695.4:c.1783C>T | ENSP00000481744.1:p.Leu595Phe | |
| ENST00000618192.4:c.1783C>T | ENSP00000480802.1:p.Leu595Phe | |
| NM_000426.3:c.1783C>T , LRG_409t1:c.1783C>T | NP_000417.2:p.Leu595Phe | |
| NM_001079823.1:c.1783C>T | NP_001073291.1:p.Leu595Phe | |
| XM_005266981.2:c.1783C>T | XP_005267038.1:p.Leu595Phe | |
| XM_005266982.2:c.1783C>T | XP_005267039.1:p.Leu595Phe | |
| XM_011535820.1:c.1783C>T | XP_011534122.1:p.Leu595Phe | |
| XM_005266981.3:c.1783C>T | XP_005267038.1:p.Leu595Phe | |
| XM_005266982.3:c.1783C>T | XP_005267039.1:p.Leu595Phe | |
| XM_011535820.2:c.1783C>T | XP_011534122.1:p.Leu595Phe | |
| XM_017010851.2:c.1789C>T | XP_016866340.1:p.Leu597Phe | |
| XM_017010852.1:c.-87C>T | XP_016866341.1:n.-87C>T | |
| XM_017010853.1:c.1783C>T | XP_016866342.1:p.Leu595Phe | |
| NM_000426.4:c.1783C>T MANE Select | NP_000417.3:p.Leu595Phe | |
| NM_001079823.2:c.1783C>T | NP_001073291.2:p.Leu595Phe |