Linked Data
dbSNP Id:
rs766703959
ExAC:
1:197008513 T / G
gnomAD v2:
1-197008513-T-G
gnomAD v4:
1-197039383-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039383T>G , CM000663.2:g.197039383T>G | GRCh38 |
| NC_000001.10:g.197008513T>G , CM000663.1:g.197008513T>G | GRCh37 |
| NC_000001.9:g.195275136T>G | NCBI36 |
| NG_012065.1:g.32885A>C , LRG_550:g.32885A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.1981A>C MANE Select | ENSP00000356382.2:p.Thr661Pro | |
| ENST00000649282.1:c.736A>C | ENSP00000497116.1:p.Thr246Pro | |
| ENST00000367412.1:c.1981A>C | ENSP00000356382.1:p.Thr661Pro | |
| NM_001994.2:c.1981A>C , LRG_550t1:c.1981A>C | NP_001985.2:p.Thr661Pro | |
| XM_011509283.2:c.*916A>C | XP_011507585.1:n.*916A>C | |
| XM_011509284.2:c.*916A>C | XP_011507586.1:n.*916A>C | |
| XM_011509286.2:c.*916A>C | XP_011507588.1:n.*916A>C | |
| NM_001994.3:c.1981A>C MANE Select | NP_001985.2:p.Thr661Pro |