Linked Data
dbSNP Id:
rs6761276
ExAC:
2:113832312 T / C
gnomAD v2:
2-113832312-T-C
gnomAD v3:
2-113074735-T-C
gnomAD v4:
2-113074735-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113074735T>C , CM000664.2:g.113074735T>C | GRCh38 |
| NC_000002.11:g.113832312T>C , CM000664.1:g.113832312T>C | GRCh37 |
| NC_000002.10:g.113548783T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393197.3:c.131T>C | ENSP00000376893.2:p.Ile44Thr | |
| ENST00000341010.6:c.131T>C MANE Select | ENSP00000341794.2:p.Ile44Thr | |
| ENST00000393197.2:c.131T>C | ENSP00000376893.2:p.Ile44Thr | |
| ENST00000496265.1:n.197T>C | ||
| NM_032556.5:c.131T>C | NP_115945.4:p.Ile44Thr | |
| NM_173161.2:c.131T>C | NP_775184.1:p.Ile44Thr | |
| NM_032556.6:c.131T>C | NP_115945.4:p.Ile44Thr | |
| NM_173161.3:c.131T>C MANE Select | NP_775184.1:p.Ile44Thr |