Linked Data
dbSNP Id:
rs1199970384
gnomAD v2:
18-29111110-T-C
gnomAD v3:
18-31531147-T-C
gnomAD v4:
18-31531147-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531147T>C , CM000680.2:g.31531147T>C | GRCh38 |
| NC_000018.9:g.29111110T>C , CM000680.1:g.29111110T>C | GRCh37 |
| NC_000018.8:g.27365108T>C | NCBI36 |
| NG_007072.3:g.37906T>C , LRG_397:g.37906T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683614.2:n.1006T>C | ||
| ENST00000683614.1:c.1006T>C | ||
| ENST00000261590.13:c.1175T>C MANE Select | ENSP00000261590.8:p.Val392Ala | |
| ENST00000261590.12:c.1175T>C | ENSP00000261590.8:p.Val392Ala | |
| NM_001943.3:c.1175T>C , LRG_397t1:c.1175T>C | NP_001934.2:p.Val392Ala | |
| NM_001943.4:c.1175T>C | NP_001934.2:p.Val392Ala | |
| XM_024451095.1:c.641T>C | XP_024306863.1:p.Val214Ala | |
| NM_001943.5:c.1175T>C MANE Select | NP_001934.2:p.Val392Ala |