Linked Data
dbSNP Id:
rs1053941
gnomAD v2:
1-46084383-G-T
gnomAD v3:
1-45618711-G-T
gnomAD v4:
1-45618711-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45618711G>T , CM000663.2:g.45618711G>T | GRCh38 |
| NC_000001.10:g.46084383G>T , CM000663.1:g.46084383G>T | GRCh37 |
| NC_000001.9:g.45856970G>T | NCBI36 |
| NG_029224.1:g.39724G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350030.8:c.*570G>T MANE Select | ENSP00000255120.5:n.*570G>T | |
| ENST00000350030.7:c.*570G>T | ENSP00000255120.5:n.*570G>T | |
| ENST00000537798.5:c.*570G>T | ENSP00000438871.1:n.*570G>T | |
| NM_001195193.1:c.*570G>T | NP_001182122.1:n.*570G>T | |
| NM_002482.3:c.*570G>T | NP_002473.2:n.*570G>T | |
| NM_152298.3:c.*570G>T | NP_689511.2:n.*570G>T | |
| XM_005270888.2:c.*570G>T | XP_005270945.1:n.*570G>T | |
| XM_005270889.2:c.*570G>T | XP_005270946.1:n.*570G>T | |
| XM_011541509.1:c.*570G>T | XP_011539811.1:n.*570G>T | |
| XM_005270888.3:c.*570G>T | XP_005270945.1:n.*570G>T | |
| XM_005270889.3:c.*570G>T | XP_005270946.1:n.*570G>T | |
| XM_011541509.2:c.*570G>T | XP_011539811.1:n.*570G>T | |
| XM_017001356.2:c.*570G>T | XP_016856845.1:n.*570G>T | |
| NM_002482.4:c.*570G>T MANE Select | NP_002473.2:n.*570G>T | |
| NM_152298.4:c.*570G>T | NP_689511.2:n.*570G>T | |
| NM_001195193.2:c.*570G>T | NP_001182122.1:n.*570G>T |