Linked Data
dbSNP Id:
rs11591741
gnomAD v2:
10-101976501-G-C
gnomAD v3:
10-100216744-G-C
gnomAD v4:
10-100216744-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100216744G>C , CM000672.2:g.100216744G>C | GRCh38 |
| NC_000010.10:g.101976501G>C , CM000672.1:g.101976501G>C | GRCh37 |
| NC_000010.9:g.101966491G>C | NCBI36 |
| NG_028023.1:g.17844C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370397.8:c.933+1251C>G MANE Select | ENSP00000359424.6:n.933+1251C>G | |
| ENST00000370397.7:c.933+1251C>G | ENSP00000359424.6:n.933+1251C>G | |
| NM_001278.3:c.933+1251C>G | NP_001269.3:n.933+1251C>G | |
| XM_011539196.1:c.933+1251C>G | XP_011537498.1:n.933+1251C>G | |
| XM_011539197.1:c.933+1251C>G | XP_011537499.1:n.933+1251C>G | |
| XM_011539198.1:c.933+1251C>G | XP_011537500.1:n.933+1251C>G | |
| XR_945589.1:n.1011+1251C>G | ||
| XR_945590.1:n.1011+1251C>G | ||
| NM_001278.4:c.933+1251C>G | NP_001269.3:n.933+1251C>G | |
| NM_001320928.1:c.933+1251C>G | NP_001307857.1:n.933+1251C>G | |
| XM_017015611.1:c.933+1251C>G | XP_016871100.1:n.933+1251C>G | |
| XM_017015612.1:c.933+1251C>G | XP_016871101.1:n.933+1251C>G | |
| XR_001747010.1:n.1011+1251C>G | ||
| XR_001747011.1:n.1011+1251C>G | ||
| NM_001278.5:c.933+1251C>G MANE Select | NP_001269.3:n.933+1251C>G | |
| NM_001320928.2:c.933+1251C>G | NP_001307857.1:n.933+1251C>G |