Linked Data
ClinVar Variation Id:
336209
ClinVar RCV Id:
RCV000314915
dbSNP Id:
rs148703534
ExAC:
2:44547437 T / C
gnomAD v2:
2-44547437-T-C
gnomAD v3:
2-44320298-T-C
gnomAD v4:
2-44320298-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44320298T>C , CM000664.2:g.44320298T>C | GRCh38 |
| NC_000002.11:g.44547437T>C , CM000664.1:g.44547437T>C | GRCh37 |
| NC_000002.10:g.44400941T>C | NCBI36 |
| NG_008233.1:g.49841T>C | |
| NG_016429.1:g.46565A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.1717T>C (SLC3A1) MANE Select | ENSP00000260649.6:p.Leu573= | |
| ENST00000409411.6:c.*1058A>G (PREPL) MANE Select | ENSP00000387095.2:n.*1058A>G | |
| ENST00000649044.1:c.*1728T>C | ENSP00000497083.1:n.*1728T>C | |
| ENST00000260649.10:c.1717T>C (SLC3A1) | ENSP00000260649.6:p.Leu573= | |
| ENST00000409380.5:c.883T>C (SLC3A1) | ENSP00000386709.1:p.Leu295= | |
| ENST00000409411.5:c.*1058A>G (PREPL) | ENSP00000387095.1:n.*1058A>G | |
| ENST00000409740.3:c.610T>C (SLC3A1) | ENSP00000386677.3:p.Leu204= | |
| ENST00000409936.5:c.*1058A>G (PREPL) | ENSP00000386543.1:n.*1058A>G | |
| ENST00000409957.5:c.*1058A>G (PREPL) | ENSP00000387241.1:n.*1058A>G | |
| ENST00000425263.5:c.*1058A>G (PREPL) | ENSP00000391456.1:n.*1058A>G | |
| ENST00000426481.5:c.*1058A>G (PREPL) | ENSP00000409480.1:n.*1058A>G | |
| ENST00000444696.5:c.551A>G (PREPL) | ENSP00000390618.1:n.551A>G | |
| ENST00000541738.5:c.*1058A>G (PREPL) | ENSP00000439626.1:n.*1058A>G | |
| NM_000341.3:c.1717T>C (SLC3A1) | NP_000332.2:p.Leu573= | |
| NM_001042385.2:c.*1058A>G (PREPL) | NP_001035844.1:n.*1058A>G | |
| NM_001042386.2:c.*1058A>G (PREPL) | NP_001035845.1:n.*1058A>G | |
| NM_001171603.1:c.*1058A>G (PREPL) | NP_001165074.1:n.*1058A>G | |
| NM_001171606.1:c.*1058A>G (PREPL) | NP_001165077.1:n.*1058A>G | |
| NM_001171613.1:c.*1058A>G (PREPL) | NP_001165084.1:n.*1058A>G | |
| NM_001171617.1:c.*1058A>G (PREPL) | NP_001165088.1:n.*1058A>G | |
| NM_006036.4:c.*1058A>G (PREPL) | NP_006027.2:n.*1058A>G | |
| XM_011533198.1:c.*1058A>G (PREPL) | XP_011531500.1:n.*1058A>G | |
| XM_011533199.1:c.*1058A>G (PREPL) | XP_011531501.1:n.*1058A>G | |
| XM_011533200.1:c.*1058A>G (PREPL) | XP_011531502.1:n.*1058A>G | |
| XM_011533201.1:c.*1131A>G (PREPL) | XP_011531503.1:n.*1131A>G | |
| XM_011533202.1:c.*1058A>G (PREPL) | XP_011531504.1:n.*1058A>G | |
| XM_011533047.3:c.*2103T>C (SLC3A1) | XP_011531349.1:n.*2103T>C | |
| XM_011533198.2:c.*1058A>G (PREPL) | XP_011531500.1:n.*1058A>G | |
| XM_017005384.1:c.*1058A>G (PREPL) | XP_016860873.1:n.*1058A>G | |
| XM_017005385.1:c.*1058A>G (PREPL) | XP_016860874.1:n.*1058A>G | |
| NM_000341.4:c.1717T>C (SLC3A1) MANE Select | NP_000332.2:p.Leu573= | |
| NM_001171613.2:c.*1058A>G (PREPL) MANE Select | NP_001165084.1:n.*1058A>G | |
| NM_001374275.1:c.*1058A>G (PREPL) | NP_001361204.1:n.*1058A>G | |
| NM_001374276.1:c.*1058A>G (PREPL) | NP_001361205.1:n.*1058A>G | |
| NM_001374277.1:c.*1058A>G (PREPL) | NP_001361206.1:n.*1058A>G | |
| NM_001171606.2:c.*1058A>G (PREPL) | NP_001165077.1:n.*1058A>G |