Linked Data
ClinVar Variation Id:
179738
dbSNP Id:
rs727505092
ExAC:
5:155771540 T / A
gnomAD v2:
5-155771540-T-A
gnomAD v3:
5-156344530-T-A
gnomAD v4:
5-156344530-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156344530T>A , CM000667.2:g.156344530T>A | GRCh38 |
| NC_000005.9:g.155771540T>A , CM000667.1:g.155771540T>A | GRCh37 |
| NC_000005.8:g.155704118T>A | NCBI36 |
| NG_008693.2:g.479187T>A , LRG_205:g.479187T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.45T>A MANE Select | ENSP00000338343.4:p.Pro15= | |
| ENST00000337851.8:c.45T>A | ENSP00000338343.4:p.Pro15= | |
| ENST00000435422.7:c.42T>A | ENSP00000403003.2:p.Pro14= | |
| ENST00000517913.5:c.45T>A | ENSP00000429378.1:p.Pro15= | |
| ENST00000524347.2:c.45T>A | ENSP00000430794.1:p.Pro15= | |
| NM_000337.5:c.45T>A , LRG_205t1:c.45T>A | NP_000328.2:p.Pro15= | |
| NM_001128209.1:c.42T>A | NP_001121681.1:p.Pro14= | |
| NM_172244.2:c.45T>A | NP_758447.1:p.Pro15= | |
| XM_005265966.3:c.45T>A | XP_005266023.1:p.Pro15= | |
| XM_005265967.1:c.45T>A | XP_005266024.1:p.Pro15= | |
| XM_006714911.2:c.45T>A | XP_006714974.1:p.Pro15= | |
| XM_011534621.1:c.42T>A | XP_011532923.1:p.Pro14= | |
| XR_941123.1:n.254+2923A>T | ||
| XM_005265966.5:c.45T>A | XP_005266023.1:p.Pro15= | |
| XM_005265967.2:c.45T>A | XP_005266024.1:p.Pro15= | |
| XM_011534621.2:c.42T>A | XP_011532923.1:p.Pro14= | |
| XM_017009723.2:c.45T>A | XP_016865212.1:p.Pro15= | |
| XM_017009724.1:c.45T>A | XP_016865213.1:p.Pro15= | |
| NM_001128209.2:c.42T>A | NP_001121681.1:p.Pro14= | |
| NM_172244.3:c.45T>A | NP_758447.1:p.Pro15= | |
| NM_000337.6:c.45T>A MANE Select | NP_000328.2:p.Pro15= |