Linked Data
dbSNP Id:
rs1237219473
gnomAD v2:
10-127477526-G-A
gnomAD v3:
10-125788957-G-A
gnomAD v4:
10-125788957-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788957G>A , CM000672.2:g.125788957G>A | GRCh38 |
| NC_000010.10:g.127477526G>A , CM000672.1:g.127477526G>A | GRCh37 |
| NC_000010.9:g.127467516G>A | NCBI36 |
| NG_011557.1:g.39312C>T | |
| NG_011557.2:g.39312C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.709C>T | ENSP00000518871.1:p.Leu237Phe | |
| ENST00000368797.10:c.709C>T MANE Select | ENSP00000357787.4:p.Leu237Phe | |
| ENST00000465577.6:c.729C>T | ||
| ENST00000648427.1:c.*707C>T | ENSP00000497909.1:n.*707C>T | |
| ENST00000649536.1:c.709C>T | ENSP00000497817.1:p.Leu237Phe | |
| ENST00000650185.1:c.859C>T | ||
| ENST00000650472.1:n.3095C>T | ||
| ENST00000650524.1:c.622C>T | ENSP00000498108.1:n.622C>T | |
| ENST00000650587.1:c.790C>T | ENSP00000497366.1:p.Leu264Phe | |
| ENST00000368786.5:c.709C>T | ENSP00000357775.1:p.Leu237Phe | |
| ENST00000368797.8:c.709C>T | ENSP00000357787.4:p.Leu237Phe | |
| ENST00000464267.1:n.806C>T | ||
| ENST00000465577.5:n.351C>T | ||
| ENST00000470483.1:n.397C>T | ||
| ENST00000484541.5:n.482C>T | ||
| ENST00000616800.4:c.161-3697C>T | ||
| ENST00000622016.4:c.241-3118C>T | ENSP00000483041.1:n.241-3118C>T | |
| NM_000375.2:c.709C>T | NP_000366.1:p.Leu237Phe | |
| XM_005270137.2:c.790C>T | XP_005270194.1:p.Leu264Phe | |
| XM_005270138.2:c.709C>T | XP_005270195.1:p.Leu237Phe | |
| XM_005270139.2:c.661-3118C>T | XP_005270196.1:n.661-3118C>T | |
| XM_006717960.2:c.790C>T | XP_006718023.1:p.Leu264Phe | |
| XM_011540127.1:c.661-3697C>T | XP_011538429.1:n.661-3697C>T | |
| XR_246103.2:n.889C>T | ||
| XR_945810.1:n.1119C>T | ||
| NM_000375.3:c.709C>T MANE Select | NP_000366.1:p.Leu237Phe | |
| NM_001324036.1:c.790C>T | NP_001310965.1:p.Leu264Phe | |
| NM_001324037.1:c.709C>T | NP_001310966.1:p.Leu237Phe | |
| NM_001324038.1:c.628C>T | NP_001310967.1:p.Leu210Phe | |
| NR_136675.1:n.794C>T | ||
| NR_136676.1:n.1221C>T | ||
| NR_136677.1:n.927-3118C>T | ||
| NR_136678.1:n.705C>T | ||
| XM_011540127.2:c.661-3697C>T | XP_011538429.1:n.661-3697C>T | |
| XM_017016611.2:c.790C>T | XP_016872100.2:p.Leu264Phe | |
| XM_017016612.2:c.661-3118C>T | XP_016872101.1:n.661-3118C>T | |
| XM_024448154.1:c.709C>T | XP_024303922.1:p.Leu237Phe | |
| XR_002957010.1:n.2048C>T | ||
| XR_246103.3:n.904C>T | ||
| XR_945810.2:n.1134C>T | ||
| NM_001324036.2:c.790C>T | NP_001310965.1:p.Leu264Phe | |
| NM_001324037.2:c.709C>T | NP_001310966.1:p.Leu237Phe | |
| NM_001324038.2:c.628C>T | NP_001310967.1:p.Leu210Phe | |
| NR_136675.2:n.784C>T | ||
| NR_136676.2:n.1211C>T | ||
| NR_136678.2:n.695C>T | ||
| NR_136677.2:n.917-3118C>T |