Linked Data
dbSNP Id:
rs765199
gnomAD v2:
5-32742465-C-T
gnomAD v3:
5-32742359-C-T
gnomAD v4:
5-32742359-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32742359C>T , CM000667.2:g.32742359C>T | GRCh38 |
| NC_000005.9:g.32742465C>T , CM000667.1:g.32742465C>T | GRCh37 |
| NC_000005.8:g.32778222C>T | NCBI36 |
| NG_028162.1:g.36723C>T | |
| NG_028162.2:g.58284C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265074.13:c.1059+3329C>T MANE Select | ENSP00000265074.8:n.1059+3329C>T | |
| ENST00000265074.12:c.1059+3329C>T | ENSP00000265074.8:n.1059+3329C>T | |
| ENST00000326958.5:c.411+3329C>T | ENSP00000318340.2:n.411+3329C>T | |
| ENST00000415167.2:c.1059+3329C>T | ENSP00000398028.2:n.1059+3329C>T | |
| ENST00000434067.6:c.411+3329C>T | ENSP00000388408.2:n.411+3329C>T | |
| ENST00000506712.1:n.420+3329C>T | ||
| ENST00000509104.5:c.390+3329C>T | ENSP00000425325.1:n.390+3329C>T | |
| NM_000908.3:c.1059+3329C>T | NP_000899.1:n.1059+3329C>T | |
| NM_001204375.1:c.1059+3329C>T | NP_001191304.1:n.1059+3329C>T | |
| NM_001204376.1:c.411+3329C>T | NP_001191305.1:n.411+3329C>T | |
| XM_005248309.1:c.411+3329C>T | XP_005248366.1:n.411+3329C>T | |
| XM_011514047.1:c.390+3329C>T | XP_011512349.1:n.390+3329C>T | |
| XM_011514048.1:c.339+3329C>T | XP_011512350.1:n.339+3329C>T | |
| XM_011514049.1:c.282+3329C>T | XP_011512351.1:n.282+3329C>T | |
| NM_001363652.1:c.411+3329C>T | NP_001350581.1:n.411+3329C>T | |
| NM_001364458.1:c.339+3329C>T | NP_001351387.1:n.339+3329C>T | |
| NM_001364460.1:c.288+3329C>T | NP_001351389.1:n.288+3329C>T | |
| XM_011514047.2:c.390+3329C>T | XP_011512349.1:n.390+3329C>T | |
| XM_011514049.3:c.282+3329C>T | XP_011512351.1:n.282+3329C>T | |
| XM_017009492.2:c.936+3329C>T | XP_016864981.1:n.936+3329C>T | |
| NM_001204375.2:c.1059+3329C>T MANE Select | NP_001191304.1:n.1059+3329C>T | |
| NM_000908.4:c.1059+3329C>T | NP_000899.1:n.1059+3329C>T | |
| NM_001363652.2:c.411+3329C>T | NP_001350581.1:n.411+3329C>T | |
| NM_001364458.2:c.339+3329C>T | NP_001351387.1:n.339+3329C>T | |
| NM_001364460.2:c.288+3329C>T | NP_001351389.1:n.288+3329C>T | |
| NM_001204376.2:c.411+3329C>T | NP_001191305.1:n.411+3329C>T |