Linked Data
dbSNP Id:
rs752986769
ExAC:
2:190428360 G / C
gnomAD v2:
2-190428360-G-C
gnomAD v3:
2-189563634-G-C
gnomAD v4:
2-189563634-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189563634G>C , CM000664.2:g.189563634G>C | GRCh38 |
| NC_000002.11:g.190428360G>C , CM000664.1:g.190428360G>C | GRCh37 |
| NC_000002.10:g.190136605G>C | NCBI36 |
| NG_009027.1:g.22178C>G , LRG_837:g.22178C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.1352C>G MANE Select | ENSP00000261024.3:p.Pro451Arg | |
| ENST00000261024.6:c.1352C>G | ENSP00000261024.2:p.Pro451Arg | |
| NM_014585.5:c.1352C>G , LRG_837t1:c.1352C>G | NP_055400.1:p.Pro451Arg | |
| XM_005246505.1:c.1232C>G | XP_005246562.1:p.Pro411Arg | |
| XM_005246505.2:c.1232C>G | XP_005246562.1:p.Pro411Arg | |
| XM_017003938.2:c.1232C>G | XP_016859427.1:p.Pro411Arg | |
| NM_014585.6:c.1352C>G MANE Select | NP_055400.1:p.Pro451Arg |