Linked Data
dbSNP Id:
rs752766242
ExAC:
13:113772981 G / T
gnomAD v2:
13-113772981-G-T
gnomAD v4:
13-113118667-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118667G>T , CM000675.2:g.113118667G>T | GRCh38 |
| NC_000013.10:g.113772981G>T , CM000675.1:g.113772981G>T | GRCh37 |
| NC_000013.9:g.112820982G>T | NCBI36 |
| NG_009258.1:g.869G>T , LRG_548:g.869G>T | |
| NG_009262.1:g.17877G>T , LRG_554:g.17877G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.994G>T MANE Select | ENSP00000329546.4:p.Ala332Ser | |
| ENST00000346342.7:c.994G>T | ENSP00000329546.3:p.Ala332Ser | |
| ENST00000375581.3:c.1060G>T | ENSP00000364731.3:p.Ala354Ser | |
| ENST00000541084.5:c.808G>T | ENSP00000442051.2:p.Ala270Ser | |
| NM_000131.4:c.1060G>T , LRG_554t1:c.1060G>T | NP_000122.1:p.Ala354Ser | |
| NM_001267554.1:c.808G>T | NP_001254483.1:p.Ala270Ser | |
| NM_019616.3:c.994G>T , LRG_554t2:c.994G>T | NP_062562.1:p.Ala332Ser | |
| NR_051961.1:n.1081G>T | ||
| XM_006719963.2:c.853G>T | XP_006720026.1:p.Ala285Ser | |
| XM_011537474.1:c.1102G>T | XP_011535776.1:p.Ala368Ser | |
| XM_011537475.1:c.916G>T | XP_011535777.1:p.Ala306Ser | |
| XM_011537476.1:c.754G>T | XP_011535778.1:p.Ala252Ser | |
| XM_011537477.1:c.1063G>T | XP_011535779.1:p.Ala355Ser | |
| XM_006719963.3:c.898G>T | XP_006720026.2:p.Ala300Ser | |
| XM_011537474.2:c.1147G>T | XP_011535776.2:p.Ala383Ser | |
| XM_011537475.2:c.961G>T | XP_011535777.2:p.Ala321Ser | |
| XM_011537476.2:c.754G>T | XP_011535778.1:p.Ala252Ser | |
| NM_019616.4:c.994G>T MANE Select | NP_062562.1:p.Ala332Ser | |
| NR_051961.2:n.1078G>T | ||
| NM_001267554.2:c.808G>T | NP_001254483.1:p.Ala270Ser |