Linked Data
dbSNP Id:
rs115160714
gnomAD v2:
3-133319865-G-A
gnomAD v3:
3-133601021-G-A
gnomAD v4:
3-133601021-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133601021G>A , CM000665.2:g.133601021G>A | GRCh38 |
| NC_000003.11:g.133319865G>A , CM000665.1:g.133319865G>A | GRCh37 |
| NC_000003.10:g.134802555G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260810.10:c.*229C>T MANE Select | ENSP00000260810.5:n.*229C>T | |
| ENST00000642236.1:c.*229C>T | ENSP00000493612.1:n.*229C>T | |
| ENST00000260810.9:c.*229C>T | ENSP00000260810.5:n.*229C>T | |
| ENST00000503338.5:n.163-2391C>T | ||
| ENST00000503464.1:n.163-2391C>T | ||
| NM_007027.3:c.*229C>T | NP_008958.2:n.*229C>T | |
| XM_005247076.2:c.*229C>T | XP_005247133.1:n.*229C>T | |
| NM_001363889.1:c.*229C>T | NP_001350818.1:n.*229C>T | |
| XM_017005636.2:c.*229C>T | XP_016861125.1:n.*229C>T | |
| XM_017005637.2:c.*229C>T | XP_016861126.1:n.*229C>T | |
| XR_001739988.2:n.4826C>T | ||
| NM_001363889.2:c.*229C>T | NP_001350818.1:n.*229C>T | |
| NM_007027.4:c.*229C>T MANE Select | NP_008958.2:n.*229C>T |