Linked Data
ClinVar Variation Id:
2144139
ClinVar RCV Id:
RCV003053258
dbSNP Id:
rs1774540665
gnomAD v3:
6-129315617-T-C
gnomAD v4:
6-129315617-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129315617T>C , CM000668.2:g.129315617T>C | GRCh38 |
| NC_000006.11:g.129636762T>C , CM000668.1:g.129636762T>C | GRCh37 |
| NC_000006.10:g.129678455T>C | NCBI36 |
| NG_008678.1:g.437477T>C , LRG_409:g.437477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.3697T>C | ENSP00000481744.2:p.Phe1233Leu | |
| ENST00000618192.5:c.3961T>C | ENSP00000480802.2:p.Phe1321Leu | |
| ENST00000421865.3:c.3697T>C MANE Select | ENSP00000400365.2:p.Phe1233Leu | |
| ENST00000421865.2:c.3697T>C | ENSP00000400365.2:p.Phe1233Leu | |
| ENST00000617695.4:c.3697T>C | ENSP00000481744.1:p.Phe1233Leu | |
| ENST00000618192.4:c.3697T>C | ENSP00000480802.1:p.Phe1233Leu | |
| NM_000426.3:c.3697T>C , LRG_409t1:c.3697T>C | NP_000417.2:p.Phe1233Leu | |
| NM_001079823.1:c.3697T>C | NP_001073291.1:p.Phe1233Leu | |
| XM_005266981.2:c.3961T>C | XP_005267038.1:p.Phe1321Leu | |
| XM_005266982.2:c.3961T>C | XP_005267039.1:p.Phe1321Leu | |
| XM_011535820.1:c.3961T>C | XP_011534122.1:p.Phe1321Leu | |
| XM_005266981.3:c.3961T>C | XP_005267038.1:p.Phe1321Leu | |
| XM_005266982.3:c.3961T>C | XP_005267039.1:p.Phe1321Leu | |
| XM_011535820.2:c.3961T>C | XP_011534122.1:p.Phe1321Leu | |
| XM_017010851.2:c.3967T>C | XP_016866340.1:p.Phe1323Leu | |
| XM_017010852.1:c.2092T>C | XP_016866341.1:p.Phe698Leu | |
| XM_017010853.1:c.3961T>C | XP_016866342.1:p.Phe1321Leu | |
| NM_000426.4:c.3697T>C MANE Select | NP_000417.3:p.Phe1233Leu | |
| NM_001079823.2:c.3697T>C | NP_001073291.2:p.Phe1233Leu |