Linked Data
dbSNP Id:
rs2650427
gnomAD v2:
16-10114558-T-C
gnomAD v3:
16-10020701-T-C
gnomAD v4:
16-10020701-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10020701T>C , CM000678.2:g.10020701T>C | GRCh38 |
| NC_000016.9:g.10114558T>C , CM000678.1:g.10114558T>C | GRCh37 |
| NC_000016.8:g.10022059T>C | NCBI36 |
| NG_011812.1:g.167054A>G | |
| NG_011812.2:g.167054A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330684.4:c.415-82150A>G MANE Select | ENSP00000332549.3:n.415-82150A>G | |
| ENST00000637393.1:c.7-82150A>G | ENSP00000490232.1:n.7-82150A>G | |
| ENST00000674742.1:c.-57-82150A>G | ENSP00000502200.1:n.-57-82150A>G | |
| ENST00000675189.1:n.899-82150A>G | ||
| ENST00000675398.1:c.415-82150A>G | ENSP00000502752.1:n.415-82150A>G | |
| ENST00000330684.3:c.415-82150A>G | ENSP00000332549.3:n.415-82150A>G | |
| ENST00000396573.6:c.415-82150A>G | ENSP00000379818.2:n.415-82150A>G | |
| ENST00000562109.5:c.415-82150A>G | ENSP00000454998.1:n.415-82150A>G | |
| ENST00000566670.2:n.256+10624A>G | ||
| ENST00000566683.1:n.240+10624A>G | ||
| ENST00000568247.3:n.140+6860A>G | ||
| NM_000833.4:c.415-82150A>G | NP_000824.1:n.415-82150A>G | |
| NM_001134407.2:c.415-82150A>G | NP_001127879.1:n.415-82150A>G | |
| NM_001134408.2:c.415-82150A>G | NP_001127880.1:n.415-82150A>G | |
| XM_011522456.1:c.255+41450A>G | XP_011520758.1:n.255+41450A>G | |
| XM_011522458.1:c.-58+10624A>G | XP_011520760.1:n.-58+10624A>G | |
| XM_011522459.1:c.-202+10624A>G | XP_011520761.1:n.-202+10624A>G | |
| XM_011522460.1:c.-198+10624A>G | XP_011520762.1:n.-198+10624A>G | |
| XM_011522461.1:c.415-82150A>G | XP_011520763.1:n.415-82150A>G | |
| XM_011522458.3:c.-58+10624A>G | XP_011520760.1:n.-58+10624A>G | |
| XM_011522461.3:c.415-82150A>G | XP_011520763.1:n.415-82150A>G | |
| XM_017023172.1:c.571-82150A>G | XP_016878661.1:n.571-82150A>G | |
| XM_017023173.1:c.571-82150A>G | XP_016878662.1:n.571-82150A>G | |
| NM_001134407.3:c.415-82150A>G MANE Select | NP_001127879.1:n.415-82150A>G | |
| NM_000833.5:c.415-82150A>G | NP_000824.1:n.415-82150A>G |