Linked Data
dbSNP Id:
rs763409434
ExAC:
14:80669494 A / T
gnomAD v2:
14-80669494-A-T
gnomAD v3:
14-80203151-A-T
gnomAD v4:
14-80203151-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80203151A>T , CM000676.2:g.80203151A>T | GRCh38 |
| NC_000014.8:g.80669494A>T , CM000676.1:g.80669494A>T | GRCh37 |
| NC_000014.7:g.79739247A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438257.9:c.360T>A MANE Select | ENSP00000405854.5:p.Pro120= | |
| ENST00000555750.2:c.*198T>A | ENSP00000450980.2:n.*198T>A | |
| ENST00000422005.7:c.*161T>A | ENSP00000411438.4:n.*161T>A | |
| ENST00000438257.8:c.360T>A | ENSP00000405854.4:p.Pro120= | |
| ENST00000555750.1:c.468T>A | ENSP00000450980.1:p.Pro156= | |
| ENST00000555844.1:c.444T>A | ||
| ENST00000556811.5:c.336T>A | ||
| ENST00000557010.5:c.360T>A | ENSP00000451419.1:p.Pro120= | |
| ENST00000557125.1:c.49-65T>A | ENSP00000450547.1:n.49-65T>A | |
| NM_000793.5:c.360T>A | NP_000784.2:p.Pro120= | |
| NM_001007023.3:c.468T>A | NP_001007024.1:p.Pro156= | |
| NM_001242502.1:c.*161T>A | NP_001229431.1:n.*161T>A | |
| NM_001242503.1:c.*161T>A | NP_001229432.1:n.*161T>A | |
| NM_013989.4:c.360T>A | NP_054644.1:p.Pro120= | |
| NM_000793.6:c.360T>A | NP_000784.3:p.Pro120= | |
| NM_001324462.2:c.360T>A | NP_001311391.2:p.Pro120= | |
| NM_001366496.1:c.360T>A | NP_001353425.1:p.Pro120= | |
| NM_013989.5:c.360T>A MANE Select | NP_054644.1:p.Pro120= | |
| NR_158990.1:n.500T>A | ||
| NR_158991.1:n.634T>A |