Linked Data
dbSNP Id:
rs1453108359
gnomAD v2:
2-241812442-A-C
gnomAD v3:
2-240873025-A-C
gnomAD v4:
2-240873025-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873025A>C , CM000664.2:g.240873025A>C | GRCh38 |
| NC_000002.11:g.241812442A>C , CM000664.1:g.241812442A>C | GRCh37 |
| NC_000002.10:g.241461115A>C | NCBI36 |
| NG_008005.1:g.9281A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.571A>C MANE Select | ENSP00000302620.3:p.Thr191Pro | |
| ENST00000307503.3:c.571A>C | ENSP00000302620.3:p.Thr191Pro | |
| ENST00000472436.1:n.591A>C | ||
| ENST00000476698.1:n.308A>C | ||
| NM_000030.2:c.571A>C | NP_000021.1:p.Thr191Pro | |
| NM_000030.3:c.571A>C MANE Select | NP_000021.1:p.Thr191Pro |