Linked Data
dbSNP Id:
rs560887
ExAC:
2:169763148 T / C
gnomAD v2:
2-169763148-T-C
gnomAD v3:
2-168906638-T-C
gnomAD v4:
2-168906638-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168906638T>C , CM000664.2:g.168906638T>C | GRCh38 |
| NC_000002.11:g.169763148T>C , CM000664.1:g.169763148T>C | GRCh37 |
| NC_000002.10:g.169471394T>C | NCBI36 |
| NG_011682.1:g.10399T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375363.8:c.441-26T>C (G6PC2) MANE Select | ENSP00000364512.3:n.441-26T>C | |
| ENST00000282075.5:c.*22-26T>C (G6PC2) | ENSP00000282075.4:n.*22-26T>C | |
| ENST00000375363.7:c.441-26T>C (G6PC2) | ENSP00000364512.3:n.441-26T>C | |
| ENST00000421979.1:c.219-930T>C (G6PC2) | ENSP00000392183.1:n.219-930T>C | |
| ENST00000429379.2:c.441-930T>C (G6PC2) | ENSP00000396939.2:n.441-930T>C | |
| ENST00000451987.5:c.-173+6562A>G (SPC25) | ENSP00000393322.1:n.-173+6562A>G | |
| ENST00000461586.1:n.157-930T>C (G6PC2) | ||
| ENST00000472216.2:n.176+6558A>G (SPC25) | ||
| NM_001081686.1:c.441-930T>C (G6PC2) | NP_001075155.1:n.441-930T>C | |
| NM_021176.2:c.441-26T>C (G6PC2) | NP_066999.1:n.441-26T>C | |
| XM_011511564.1:c.329-930T>C (G6PC2) | XP_011509866.1:n.329-930T>C | |
| XM_011511565.1:c.93-26T>C (G6PC2) | XP_011509867.1:n.93-26T>C | |
| XM_011511564.3:c.329-930T>C (G6PC2) | XP_011509866.1:n.329-930T>C | |
| XM_011511565.3:c.93-26T>C (G6PC2) | XP_011509867.1:n.93-26T>C | |
| NM_001081686.2:c.441-930T>C (G6PC2) | NP_001075155.1:n.441-930T>C | |
| NM_021176.3:c.441-26T>C (G6PC2) MANE Select | NP_066999.1:n.441-26T>C |