Linked Data
dbSNP Id:
rs749002768
ExAC:
19:7125412 T / C
gnomAD v2:
19-7125412-T-C
gnomAD v4:
19-7125401-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125401T>C , CM000681.2:g.7125401T>C | GRCh38 |
| NC_000019.9:g.7125412T>C , CM000681.1:g.7125412T>C | GRCh37 |
| NC_000019.8:g.7076412T>C | NCBI36 |
| NG_008852.2:g.173600A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3140A>G MANE Select | ENSP00000303830.4:p.Lys1047Arg | |
| ENST00000302850.9:c.3140A>G | ENSP00000303830.4:p.Lys1047Arg | |
| ENST00000341500.9:c.3104A>G | ENSP00000342838.4:p.Lys1035Arg | |
| NM_000208.2:c.3140A>G | NP_000199.2:p.Lys1047Arg | |
| NM_000208.3:c.3140A>G | NP_000199.2:p.Lys1047Arg | |
| NM_001079817.1:c.3104A>G | NP_001073285.1:p.Lys1035Arg | |
| NM_001079817.2:c.3104A>G | NP_001073285.1:p.Lys1035Arg | |
| XM_011527988.1:c.3215A>G | XP_011526290.1:p.Lys1072Arg | |
| XM_011527989.1:c.3179A>G | XP_011526291.1:p.Lys1060Arg | |
| XM_011527988.2:c.3137A>G | XP_011526290.2:p.Lys1046Arg | |
| XM_011527989.3:c.3101A>G | XP_011526291.2:p.Lys1034Arg | |
| NM_000208.4:c.3140A>G MANE Select | NP_000199.2:p.Lys1047Arg | |
| NM_001079817.3:c.3104A>G | NP_001073285.1:p.Lys1035Arg |