Linked Data
dbSNP Id:
rs774585786
ExAC:
10:54531215 C / A
gnomAD v2:
10-54531215-C-A
gnomAD v4:
10-52771455-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52771455C>A , CM000672.2:g.52771455C>A | GRCh38 |
| NC_000010.10:g.54531215C>A , CM000672.1:g.54531215C>A | GRCh37 |
| NC_000010.9:g.54201221C>A | NCBI36 |
| NG_008196.1:g.5246G>T , LRG_154:g.5246G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674931.1:c.181G>T MANE Select | ENSP00000502789.1:p.Glu61Ter | |
| ENST00000675947.1:c.181G>T | ENSP00000502615.1:p.Glu61Ter | |
| ENST00000373968.3:c.181G>T | ENSP00000363079.3:p.Glu61Ter | |
| NM_000242.2:c.181G>T , LRG_154t1:c.181G>T | NP_000233.1:p.Glu61Ter | |
| XM_006717861.2:c.181G>T | XP_006717924.1:p.Glu61Ter | |
| XM_011539816.1:c.181G>T | XP_011538118.1:p.Glu61Ter | |
| XM_006717861.4:c.181G>T | XP_006717924.1:p.Glu61Ter | |
| XM_011539816.3:c.181G>T | XP_011538118.1:p.Glu61Ter | |
| NM_000242.3:c.181G>T | NP_000233.1:p.Glu61Ter | |
| NM_001378373.1:c.181G>T MANE Select | NP_001365302.1:p.Glu61Ter | |
| NM_001378374.1:c.181G>T | NP_001365303.1:p.Glu61Ter |