Linked Data
dbSNP Id:
rs1371506021
gnomAD v2:
8-118847748-G-T
gnomAD v3:
8-117835509-G-T
gnomAD v4:
8-117835509-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835509G>T , CM000670.2:g.117835509G>T | GRCh38 |
| NC_000008.10:g.118847748G>T , CM000670.1:g.118847748G>T | GRCh37 |
| NC_000008.9:g.118916929G>T | NCBI36 |
| NG_007455.2:g.281311C>A , LRG_493:g.281311C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.566C>A | ||
| ENST00000378204.7:c.1099C>A MANE Select | ENSP00000367446.3:p.Pro367Thr | |
| ENST00000436216.2:c.467C>A | ||
| ENST00000378204.6:c.1099C>A | ENSP00000367446.2:p.Pro367Thr | |
| ENST00000436216.1:c.467C>A | ||
| ENST00000437196.1:c.116C>A | ENSP00000407299.1:p.Ala39Asp | |
| NM_000127.2:c.1099C>A , LRG_493t1:c.1099C>A | NP_000118.2:p.Pro367Thr | |
| NM_000127.3:c.1099C>A MANE Select | NP_000118.2:p.Pro367Thr |