Linked Data
dbSNP Id:
rs2293225
gnomAD v2:
2-103035889-C-T
gnomAD v3:
2-102419429-C-T
gnomAD v4:
2-102419429-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102419429C>T , CM000664.2:g.102419429C>T | GRCh38 |
| NC_000002.11:g.103035889C>T , CM000664.1:g.103035889C>T | GRCh37 |
| NC_000002.10:g.102402321C>T | NCBI36 |
| NG_011481.1:g.5636C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264260.6:c.-337-132C>T | ENSP00000264260.2:n.-337-132C>T | |
| NM_003853.3:c.-337-132C>T | NP_003844.1:n.-337-132C>T | |
| XM_011512087.1:c.-438-132C>T | XP_011510389.1:n.-438-132C>T | |
| XM_011512087.2:c.-438-132C>T | XP_011510389.1:n.-438-132C>T | |
| XM_024453197.1:c.-1292-132C>T | XP_024308965.1:n.-1292-132C>T | |
| XM_024453198.1:c.-446-132C>T | XP_024308966.1:n.-446-132C>T | |
| XM_024453199.1:c.-589-132C>T | XP_024308967.1:n.-589-132C>T | |
| XM_024453201.1:c.-101+489C>T | XP_024308969.1:n.-101+489C>T | |
| NM_001393486.1:c.-337-132C>T | NP_001380415.1:n.-337-132C>T | |
| NM_001393488.1:c.-967-132C>T | NP_001380417.1:n.-967-132C>T | |
| NM_001393489.1:c.-438-132C>T | NP_001380418.1:n.-438-132C>T | |
| NM_003853.4:c.-337-132C>T | NP_003844.1:n.-337-132C>T |