Linked Data
dbSNP Id:
rs1212597230
gnomAD v2:
2-148612379-G-T
gnomAD v3:
2-147854810-G-T
gnomAD v4:
2-147854810-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.147854810G>T , CM000664.2:g.147854810G>T | GRCh38 |
| NC_000002.11:g.148612379G>T , CM000664.1:g.148612379G>T | GRCh37 |
| NC_000002.10:g.148328849G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241416.12:c.55+9603G>T MANE Select | ENSP00000241416.7:n.55+9603G>T | |
| ENST00000241416.11:c.55+9603G>T | ENSP00000241416.7:n.55+9603G>T | |
| ENST00000404590.1:c.55+9603G>T | ENSP00000384338.1:n.55+9603G>T | |
| ENST00000462659.1:n.183+10104G>T | ||
| ENST00000465329.1:n.179+9603G>T | ||
| ENST00000487959.5:n.190+10104G>T | ||
| ENST00000535787.5:c.-207+10104G>T | ENSP00000439988.1:n.-207+10104G>T | |
| NM_001278579.1:c.55+9603G>T | NP_001265508.1:n.55+9603G>T | |
| NM_001278580.1:c.-207+10104G>T | NP_001265509.1:n.-207+10104G>T | |
| NM_001616.4:c.55+9603G>T | NP_001607.1:n.55+9603G>T | |
| XM_005263843.2:c.55+9603G>T | XP_005263900.1:n.55+9603G>T | |
| NM_001616.5:c.55+9603G>T MANE Select | NP_001607.1:n.55+9603G>T | |
| NM_001278579.2:c.55+9603G>T | NP_001265508.1:n.55+9603G>T | |
| NM_001278580.2:c.-207+10104G>T | NP_001265509.1:n.-207+10104G>T |