Linked Data
dbSNP Id:
rs1405069
ExAC:
6:36922684 A / C
gnomAD v2:
6-36922684-A-C
gnomAD v3:
6-36954908-A-C
gnomAD v4:
6-36954908-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36954908A>C , CM000668.2:g.36954908A>C | GRCh38 |
| NC_000006.11:g.36922684A>C , CM000668.1:g.36922684A>C | GRCh37 |
| NC_000006.10:g.37030662A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373674.4:c.148A>C MANE Select | ENSP00000362778.3:p.Thr50Pro | |
| ENST00000647861.1:c.148A>C | ENSP00000497550.1:p.Thr50Pro | |
| ENST00000373674.3:c.148A>C | ENSP00000362778.3:p.Thr50Pro | |
| ENST00000611814.4:c.148A>C | ENSP00000478888.1:p.Thr50Pro | |
| NM_001199159.1:c.148A>C | NP_001186088.1:p.Thr50Pro | |
| NM_153370.2:c.148A>C | NP_699201.2:p.Thr50Pro | |
| XM_005248917.1:c.148A>C | XP_005248974.1:p.Thr50Pro | |
| XM_011514375.1:c.148A>C | XP_011512677.1:p.Thr50Pro | |
| XM_005248917.3:c.148A>C | XP_005248974.1:p.Thr50Pro | |
| XM_011514375.3:c.148A>C | XP_011512677.1:p.Thr50Pro | |
| XM_017010430.2:c.148A>C | XP_016865919.1:p.Thr50Pro | |
| NM_153370.3:c.148A>C MANE Select | NP_699201.2:p.Thr50Pro | |
| NM_001199159.2:c.148A>C | NP_001186088.1:p.Thr50Pro |