Linked Data
ClinVar Variation Id:
157711
dbSNP Id:
rs34442536
ExAC:
2:178257664 C / T
gnomAD v2:
2-178257664-C-T
gnomAD v3:
2-177392936-C-T
gnomAD v4:
2-177392936-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177392936C>T , CM000664.2:g.177392936C>T | GRCh38 |
| NC_000002.11:g.178257664C>T , CM000664.1:g.178257664C>T | GRCh37 |
| NC_000002.10:g.177965910C>T | NCBI36 |
| NG_008968.1:g.5194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264167.11:c.147C>T MANE Select | ENSP00000264167.4:p.Pro49= | |
| ENST00000460342.2:n.189C>T | ||
| ENST00000637633.2:c.147C>T | ENSP00000490844.2:p.Pro49= | |
| ENST00000642466.2:c.147C>T | ENSP00000494433.2:p.Pro49= | |
| ENST00000679421.1:n.177C>T | ||
| ENST00000679459.1:c.147C>T | ENSP00000506137.1:p.Pro49= | |
| ENST00000680677.1:n.177C>T | ||
| ENST00000680705.1:n.191C>T | ||
| ENST00000680770.1:c.147C>T | ENSP00000505536.1:p.Pro49= | |
| ENST00000680893.1:c.147C>T | ENSP00000505929.1:p.Pro49= | |
| ENST00000680910.1:n.177C>T | ||
| ENST00000681032.1:c.147C>T | ENSP00000505205.1:p.Pro49= | |
| ENST00000681565.1:c.147C>T | ENSP00000505620.1:p.Pro49= | |
| ENST00000681752.1:c.147C>T | ENSP00000504994.1:p.Pro49= | |
| ENST00000264167.8:c.147C>T | ENSP00000264167.4:p.Pro49= | |
| ENST00000409888.1:c.147C>T | ENSP00000386688.1:p.Pro49= | |
| NM_003659.3:c.147C>T | NP_003650.1:p.Pro49= | |
| XM_011512044.1:c.147C>T | XP_011510346.1:p.Pro49= | |
| XM_011512045.1:c.147C>T | XP_011510347.1:p.Pro49= | |
| XR_001739007.2:n.164C>T | ||
| NM_003659.4:c.147C>T MANE Select | NP_003650.1:p.Pro49= |