Linked Data
dbSNP Id:
rs760330307
ExAC:
2:224862945 G / A
gnomAD v2:
2-224862945-G-A
gnomAD v3:
2-223998228-G-A
gnomAD v4:
2-223998228-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223998228G>A , CM000664.2:g.223998228G>A | GRCh38 |
| NC_000002.11:g.224862945G>A , CM000664.1:g.224862945G>A | GRCh37 |
| NC_000002.10:g.224571189G>A | NCBI36 |
| NG_032907.1:g.46092C>T | |
| NG_032907.2:g.46092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258405.9:c.374C>T | ENSP00000258405.4:p.Pro125Leu | |
| ENST00000409304.6:c.374C>T MANE Select | ENSP00000386412.1:p.Pro125Leu | |
| ENST00000258405.8:c.374C>T | ENSP00000258405.4:p.Pro125Leu | |
| ENST00000409304.5:c.374C>T | ENSP00000386412.1:p.Pro125Leu | |
| ENST00000409840.7:c.374C>T | ENSP00000386969.3:p.Pro125Leu | |
| ENST00000432738.5:c.374C>T | ENSP00000408452.1:p.Pro125Leu | |
| ENST00000447280.6:c.410C>T | ENSP00000415786.2:p.Pro137Leu | |
| NM_001136528.1:c.374C>T | NP_001130000.1:p.Pro125Leu | |
| NM_001136530.1:c.410C>T | NP_001130002.1:p.Pro137Leu | |
| NM_006216.3:c.374C>T | NP_006207.1:p.Pro125Leu | |
| NR_073116.1:n.1035C>T | ||
| XM_005246641.2:c.410C>T | XP_005246698.1:p.Pro137Leu | |
| XM_005246642.2:c.374C>T | XP_005246699.1:p.Pro125Leu | |
| XM_017004330.1:c.374C>T | XP_016859819.1:p.Pro125Leu | |
| XM_017004332.2:c.374C>T | XP_016859821.1:p.Pro125Leu | |
| NM_001136528.2:c.374C>T MANE Select | NP_001130000.1:p.Pro125Leu | |
| NM_006216.4:c.374C>T | NP_006207.1:p.Pro125Leu | |
| NR_073116.2:n.1035C>T |