Linked Data
dbSNP Id:
rs2351299
gnomAD v2:
4-47143365-G-T
gnomAD v3:
4-47141348-G-T
gnomAD v4:
4-47141348-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47141348G>T , CM000666.2:g.47141348G>T | GRCh38 |
| NC_000004.11:g.47143365G>T , CM000666.1:g.47143365G>T | GRCh37 |
| NC_000004.10:g.46838122G>T | NCBI36 |
| NG_051831.1:g.115071G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295454.8:c.241-19901G>T MANE Select | ENSP00000295454.3:n.241-19901G>T | |
| ENST00000295454.7:c.241-19901G>T | ENSP00000295454.3:n.241-19901G>T | |
| ENST00000510909.1:c.173-19901G>T | ENSP00000426766.1:n.173-19901G>T | |
| ENST00000513567.5:c.142-19901G>T | ENSP00000426753.1:n.142-19901G>T | |
| NM_000812.3:c.241-19901G>T | NP_000803.2:n.241-19901G>T | |
| XM_011513678.1:c.220-19901G>T | XP_011511980.1:n.220-19901G>T | |
| XM_017007986.2:c.241-19901G>T | XP_016863475.1:n.241-19901G>T | |
| XM_024453976.1:c.142-19901G>T | XP_024309744.1:n.142-19901G>T | |
| XM_024453977.1:c.142-19901G>T | XP_024309745.1:n.142-19901G>T | |
| XM_024453978.1:c.142-19901G>T | XP_024309746.1:n.142-19901G>T | |
| NM_000812.4:c.241-19901G>T MANE Select | NP_000803.2:n.241-19901G>T |