Linked Data
ClinVar Variation Id:
328743
dbSNP Id:
rs80283711
ExAC:
19:33321587 G / A
gnomAD v2:
19-33321587-G-A
gnomAD v3:
19-32830681-G-A
gnomAD v4:
19-32830681-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32830681G>A , CM000681.2:g.32830681G>A | GRCh38 |
| NC_000019.9:g.33321587G>A , CM000681.1:g.33321587G>A | GRCh37 |
| NC_000019.8:g.38013427G>A | NCBI36 |
| NG_008258.1:g.44097C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.1403C>T MANE Select | ENSP00000023064.3:p.Pro468Leu | |
| ENST00000023064.8:c.1403C>T | ENSP00000023064.3:p.Pro468Leu | |
| ENST00000587772.1:c.1403C>T | ENSP00000468439.1:p.Pro468Leu | |
| ENST00000590341.5:c.1403C>T | ENSP00000464822.1:p.Pro468Leu | |
| ENST00000590465.5:c.*1550C>T | ENSP00000468076.1:n.*1550C>T | |
| ENST00000592232.5:c.*812C>T | ENSP00000465563.1:n.*812C>T | |
| NM_001126335.1:c.1403C>T | NP_001119807.1:p.Pro468Leu | |
| NM_001243036.1:c.1403C>T | NP_001229965.1:p.Pro468Leu | |
| NM_014270.4:c.1403C>T | NP_055085.1:p.Pro468Leu | |
| XM_006722992.1:c.722C>T | XP_006723055.1:p.Pro241Leu | |
| XM_011526402.1:c.1403C>T | XP_011524704.1:p.Pro468Leu | |
| XM_011526402.3:c.1403C>T | XP_011524704.1:p.Pro468Leu | |
| XM_017026230.1:c.1139C>T | XP_016881719.1:p.Pro380Leu | |
| XM_024451334.1:c.776C>T | XP_024307102.1:p.Pro259Leu | |
| NM_014270.5:c.1403C>T MANE Select | NP_055085.1:p.Pro468Leu | |
| NM_001126335.2:c.1403C>T | NP_001119807.1:p.Pro468Leu | |
| NM_001243036.2:c.1403C>T | NP_001229965.1:p.Pro468Leu |