Linked Data
dbSNP Id:
rs1374195165
gnomAD v2:
16-23652482-G-C
gnomAD v3:
16-23641161-G-C
gnomAD v4:
16-23641161-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641161G>C , CM000678.2:g.23641161G>C | GRCh38 |
| NC_000016.9:g.23652482G>C , CM000678.1:g.23652482G>C | GRCh37 |
| NC_000016.8:g.23559983G>C | NCBI36 |
| NG_007406.1:g.5197C>G , LRG_308:g.5197C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.-856C>G | ENSP00000460666.3:n.-856C>G | |
| ENST00000565038.2:c.-4C>G | ENSP00000459882.2:n.-4C>G | |
| ENST00000566069.6:c.-4C>G | ENSP00000459237.2:n.-4C>G | |
| ENST00000697377.2:c.-243C>G | ENSP00000513286.2:n.-243C>G | |
| ENST00000697379.2:c.-149C>G | ENSP00000513287.2:n.-149C>G | |
| ENST00000561514.2:c.-1747C>G | ENSP00000460666.2:n.-1747C>G | |
| ENST00000697374.1:c.-1338C>G | ENSP00000513284.1:n.-1338C>G | |
| ENST00000697376.1:c.-1059C>G | ENSP00000513285.1:n.-1059C>G | |
| ENST00000697377.1:c.-1134C>G | ENSP00000513286.1:n.-1134C>G | |
| ENST00000697379.1:c.-1040C>G | ENSP00000513287.1:n.-1040C>G | |
| ENST00000697382.1:c.-1798C>G | ENSP00000513288.1:n.-1798C>G | |
| ENST00000697383.1:c.-4C>G | ENSP00000513289.1:n.-4C>G | |
| ENST00000697384.1:n.151C>G | ||
| ENST00000261584.9:c.-4C>G MANE Select | ENSP00000261584.4:n.-4C>G | |
| ENST00000261584.8:c.-4C>G | ENSP00000261584.4:n.-4C>G | |
| ENST00000567003.1:n.141C>G | ||
| ENST00000568219.5:c.-872C>G | ENSP00000454703.2:n.-872C>G | |
| NM_024675.3:c.-4C>G , LRG_308t1:c.-4C>G | NP_078951.2:n.-4C>G | |
| XM_011545948.1:c.-1023C>G | XP_011544250.1:n.-1023C>G | |
| XM_011545946.2:c.-856C>G | XP_011544248.1:n.-856C>G | |
| XM_011545947.2:c.-856C>G | XP_011544249.1:n.-856C>G | |
| XM_011545948.2:c.-1023C>G | XP_011544250.1:n.-1023C>G | |
| XM_017023671.1:c.-856C>G | XP_016879160.1:n.-856C>G | |
| XM_017023672.2:c.-4C>G | XP_016879161.1:n.-4C>G | |
| XM_017023673.2:c.-4C>G | XP_016879162.1:n.-4C>G | |
| NM_024675.4:c.-4C>G MANE Select | NP_078951.2:n.-4C>G |