Linked Data
dbSNP Id:
rs1254356523
gnomAD v2:
2-25965456-G-T
gnomAD v3:
2-25742587-G-T
gnomAD v4:
2-25742587-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742587G>T , CM000664.2:g.25742587G>T | GRCh38 |
| NC_000002.11:g.25965456G>T , CM000664.1:g.25965456G>T | GRCh37 |
| NC_000002.10:g.25818960G>T | NCBI36 |
| NG_052995.1:g.140930C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.3747C>A | ENSP00000337250.5:p.Phe1249Leu | |
| ENST00000435504.9:c.3750C>A MANE Select | ENSP00000391447.3:p.Phe1250Leu | |
| ENST00000336112.8:c.3666C>A | ENSP00000337250.4:p.Phe1222Leu | |
| ENST00000404843.5:c.2199C>A | ENSP00000383920.1:p.Phe733Leu | |
| ENST00000435504.8:c.3750C>A | ENSP00000391447.3:p.Phe1250Leu | |
| NM_018263.4:c.3750C>A | NP_060733.4:p.Phe1250Leu | |
| XM_006712039.2:c.3384C>A | XP_006712102.1:p.Phe1128Leu | |
| XM_006712040.1:c.2970C>A | XP_006712103.1:p.Phe990Leu | |
| XM_011532950.1:c.3747C>A | XP_011531252.1:p.Phe1249Leu | |
| XM_011532951.1:c.3576C>A | XP_011531253.1:p.Phe1192Leu | |
| NM_018263.5:c.3750C>A | NP_060733.4:p.Phe1250Leu | |
| XM_006712039.3:c.3384C>A | XP_006712102.1:p.Phe1128Leu | |
| XM_006712040.2:c.2970C>A | XP_006712103.1:p.Phe990Leu | |
| XM_011532950.3:c.3747C>A | XP_011531252.1:p.Phe1249Leu | |
| XM_011532951.2:c.3576C>A | XP_011531253.1:p.Phe1192Leu | |
| XM_017004430.1:c.2970C>A | XP_016859919.1:p.Phe990Leu | |
| XM_024452974.1:c.3930C>A | XP_024308742.1:p.Phe1310Leu | |
| NM_001369346.1:c.3576C>A | NP_001356275.1:p.Phe1192Leu | |
| NM_001369347.1:c.2970C>A | NP_001356276.1:p.Phe990Leu | |
| NM_018263.6:c.3750C>A MANE Select | NP_060733.4:p.Phe1250Leu |