Linked Data
dbSNP Id:
rs2044081
gnomAD v2:
4-47218340-C-T
gnomAD v3:
4-47216323-C-T
gnomAD v4:
4-47216323-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47216323C>T , CM000666.2:g.47216323C>T | GRCh38 |
| NC_000004.11:g.47218340C>T , CM000666.1:g.47218340C>T | GRCh37 |
| NC_000004.10:g.46913097C>T | NCBI36 |
| NG_051831.1:g.190046C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295454.8:c.461+54854C>T MANE Select | ENSP00000295454.3:n.461+54854C>T | |
| ENST00000295454.7:c.461+54854C>T | ENSP00000295454.3:n.461+54854C>T | |
| ENST00000510909.1:c.*129+54854C>T | ENSP00000426766.1:n.*129+54854C>T | |
| NM_000812.3:c.461+54854C>T | NP_000803.2:n.461+54854C>T | |
| XM_011513678.1:c.440+54854C>T | XP_011511980.1:n.440+54854C>T | |
| XM_024453976.1:c.362+54854C>T | XP_024309744.1:n.362+54854C>T | |
| XM_024453977.1:c.362+54854C>T | XP_024309745.1:n.362+54854C>T | |
| XM_024453978.1:c.362+54854C>T | XP_024309746.1:n.362+54854C>T | |
| NM_000812.4:c.461+54854C>T MANE Select | NP_000803.2:n.461+54854C>T |