Linked Data
dbSNP Id:
rs764818262
ExAC:
1:43804418 C / T
gnomAD v2:
1-43804418-C-T
gnomAD v4:
1-43338747-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338747C>T , CM000663.2:g.43338747C>T | GRCh38 |
| NC_000001.10:g.43804418C>T , CM000663.1:g.43804418C>T | GRCh37 |
| NC_000001.9:g.43577005C>T | NCBI36 |
| NG_007525.1:g.5944C>T , LRG_510:g.5944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.391+27C>T MANE Select | ENSP00000361548.3:n.391+27C>T | |
| ENST00000413998.7:c.370+27C>T | ENSP00000414004.3:n.370+27C>T | |
| ENST00000638732.1:n.391+27C>T | ||
| ENST00000372470.7:c.391+27C>T | ENSP00000361548.3:n.391+27C>T | |
| ENST00000413998.6:c.391+27C>T | ENSP00000414004.2:n.391+27C>T | |
| ENST00000612993.1:c.391+27C>T | ENSP00000480273.1:n.391+27C>T | |
| NM_005373.2:c.391+27C>T , LRG_510t1:c.391+27C>T | NP_005364.1:n.391+27C>T | |
| XM_011541478.1:c.370+27C>T | XP_011539780.1:n.370+27C>T | |
| XM_017001320.1:c.562+27C>T | XP_016856809.1:n.562+27C>T | |
| NM_005373.3:c.391+27C>T MANE Select | NP_005364.1:n.391+27C>T |