Linked Data
dbSNP Id:
rs10497203
gnomAD v2:
2-159851423-A-C
gnomAD v3:
2-158994911-A-C
gnomAD v4:
2-158994911-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.158994911A>C , CM000664.2:g.158994911A>C | GRCh38 |
| NC_000002.11:g.159851423A>C , CM000664.1:g.159851423A>C | GRCh37 |
| NC_000002.10:g.159559669A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263635.8:c.-125-6169A>C MANE Select | ENSP00000263635.6:n.-125-6169A>C | |
| ENST00000263635.7:c.-125-6169A>C | ENSP00000263635.6:n.-125-6169A>C | |
| ENST00000454300.5:c.-443-6169A>C | ENSP00000396339.2:n.-443-6169A>C | |
| NM_001145909.1:c.-125-6169A>C | NP_001139381.1:n.-125-6169A>C | |
| NM_033394.2:c.-125-6169A>C | NP_203752.2:n.-125-6169A>C | |
| XM_006712810.2:c.-16+26129A>C | XP_006712873.1:n.-16+26129A>C | |
| XM_006712812.2:c.-125-6169A>C | XP_006712875.1:n.-125-6169A>C | |
| XM_011512048.1:c.-242-6169A>C | XP_011510350.1:n.-242-6169A>C | |
| XM_011512051.1:c.-125-6169A>C | XP_011510353.1:n.-125-6169A>C | |
| XM_011512053.1:c.-16+26129A>C | XP_011510355.1:n.-16+26129A>C | |
| XM_011512055.1:c.-125-6169A>C | XP_011510357.1:n.-125-6169A>C | |
| XM_011512058.1:c.-125-6169A>C | XP_011510360.1:n.-125-6169A>C | |
| NM_001350062.1:c.-125-6169A>C | NP_001336991.1:n.-125-6169A>C | |
| NM_001350063.1:c.-125-6169A>C | NP_001336992.1:n.-125-6169A>C | |
| NM_001350064.1:c.-125-6169A>C | NP_001336993.1:n.-125-6169A>C | |
| NM_001350065.1:c.-294-6169A>C | NP_001336994.1:n.-294-6169A>C | |
| NR_146421.1:n.150-6169A>C | ||
| XM_006712810.3:c.-16+26129A>C | XP_006712873.1:n.-16+26129A>C | |
| XM_006712812.3:c.-125-6169A>C | XP_006712875.1:n.-125-6169A>C | |
| XM_011512048.2:c.-242-6169A>C | XP_011510350.1:n.-242-6169A>C | |
| XM_011512051.2:c.-125-6169A>C | XP_011510353.1:n.-125-6169A>C | |
| XM_011512053.2:c.-16+26129A>C | XP_011510355.1:n.-16+26129A>C | |
| XM_011512055.2:c.-125-6169A>C | XP_011510357.1:n.-125-6169A>C | |
| XM_011512058.2:c.-125-6169A>C | XP_011510360.1:n.-125-6169A>C | |
| XM_017005142.1:c.-422-6169A>C | XP_016860631.1:n.-422-6169A>C | |
| XM_017005145.1:c.-294-6169A>C | XP_016860634.1:n.-294-6169A>C | |
| XM_017005146.1:c.-125-6169A>C | XP_016860635.1:n.-125-6169A>C | |
| XM_017005154.1:c.-294-6169A>C | XP_016860643.1:n.-294-6169A>C | |
| XR_002959352.1:n.142-6169A>C | ||
| XR_002959353.1:n.142-6169A>C | ||
| NM_033394.3:c.-125-6169A>C MANE Select | NP_203752.2:n.-125-6169A>C | |
| NR_146421.2:n.144-6169A>C | ||
| NM_001145909.2:c.-125-6169A>C | NP_001139381.1:n.-125-6169A>C | |
| NM_001350062.2:c.-125-6169A>C | NP_001336991.1:n.-125-6169A>C | |
| NM_001350063.2:c.-125-6169A>C | NP_001336992.1:n.-125-6169A>C | |
| NM_001350064.2:c.-125-6169A>C | NP_001336993.1:n.-125-6169A>C | |
| NM_001350065.2:c.-294-6169A>C | NP_001336994.1:n.-294-6169A>C |