Linked Data
dbSNP Id:
rs775727134
ExAC:
17:79596813 G / C
gnomAD v2:
17-79596813-G-C
gnomAD v4:
17-81629787-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81629787G>C , CM000679.2:g.81629787G>C | GRCh38 |
| NC_000017.10:g.79596813G>C , CM000679.1:g.79596813G>C | GRCh37 |
| NC_000017.9:g.77207218G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000705719.1:c.163C>G | ENSP00000516165.1:p.Pro55Ala | |
| ENST00000331134.11:c.34C>G MANE Select | ENSP00000331487.5:p.Pro12Ala | |
| ENST00000331134.10:c.34C>G | ENSP00000331487.5:p.Pro12Ala | |
| ENST00000374747.9:c.34C>G | ENSP00000363879.5:p.Pro12Ala | |
| ENST00000570300.1:n.55C>G | ||
| ENST00000574897.5:c.34C>G | ENSP00000461543.1:p.Pro12Ala | |
| ENST00000625705.1:c.31C>G | ENSP00000486640.1:p.Pro11Ala | |
| NM_017921.3:c.34C>G | NP_060391.2:p.Pro12Ala | |
| XM_011524979.1:c.34C>G | XP_011523281.1:p.Pro12Ala | |
| XM_011524980.1:c.34C>G | XP_011523282.1:p.Pro12Ala | |
| XM_011524981.1:c.34C>G | XP_011523283.1:p.Pro12Ala | |
| XM_011524982.1:c.34C>G | XP_011523284.1:p.Pro12Ala | |
| XR_934501.1:n.252C>G | ||
| XR_934502.1:n.252C>G | ||
| XM_011524982.2:c.34C>G | XP_011523284.1:p.Pro12Ala | |
| XR_001752557.1:n.252C>G | ||
| NM_017921.4:c.34C>G MANE Select | NP_060391.2:p.Pro12Ala | |
| NM_001369698.1:c.34C>G | NP_001356627.1:p.Pro12Ala |