Linked Data
dbSNP Id:
rs539442260
ExAC:
4:47408964 A / T
gnomAD v2:
4-47408964-A-T
gnomAD v3:
4-47406947-A-T
gnomAD v4:
4-47406947-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406947A>T , CM000666.2:g.47406947A>T | GRCh38 |
| NC_000004.11:g.47408964A>T , CM000666.1:g.47408964A>T | GRCh37 |
| NC_000004.10:g.47103721A>T | NCBI36 |
| NG_051831.1:g.380670A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1080+21A>T MANE Select | ENSP00000295454.3:n.1080+21A>T | |
| ENST00000295454.7:c.1080+21A>T | ENSP00000295454.3:n.1080+21A>T | |
| NM_000812.3:c.1080+21A>T | NP_000803.2:n.1080+21A>T | |
| XM_011513678.1:c.1059+21A>T | XP_011511980.1:n.1059+21A>T | |
| XM_017007985.1:c.429+21A>T | XP_016863474.1:n.429+21A>T | |
| XM_024453976.1:c.981+21A>T | XP_024309744.1:n.981+21A>T | |
| XM_024453977.1:c.981+21A>T | XP_024309745.1:n.981+21A>T | |
| XM_024453978.1:c.981+21A>T | XP_024309746.1:n.981+21A>T | |
| NM_000812.4:c.1080+21A>T MANE Select | NP_000803.2:n.1080+21A>T |