Linked Data
dbSNP Id:
rs775023698
ExAC:
19:7125534 A / G
gnomAD v2:
19-7125534-A-G
gnomAD v4:
19-7125523-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125523A>G , CM000681.2:g.7125523A>G | GRCh38 |
| NC_000019.9:g.7125534A>G , CM000681.1:g.7125534A>G | GRCh37 |
| NC_000019.8:g.7076534A>G | NCBI36 |
| NG_008852.2:g.173478T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3018T>C MANE Select | ENSP00000303830.4:p.Phe1006= | |
| ENST00000302850.9:c.3018T>C | ENSP00000303830.4:p.Phe1006= | |
| ENST00000341500.9:c.2982T>C | ENSP00000342838.4:p.Phe994= | |
| NM_000208.2:c.3018T>C | NP_000199.2:p.Phe1006= | |
| NM_000208.3:c.3018T>C | NP_000199.2:p.Phe1006= | |
| NM_001079817.1:c.2982T>C | NP_001073285.1:p.Phe994= | |
| NM_001079817.2:c.2982T>C | NP_001073285.1:p.Phe994= | |
| XM_011527988.1:c.3093T>C | XP_011526290.1:p.Phe1031= | |
| XM_011527989.1:c.3057T>C | XP_011526291.1:p.Phe1019= | |
| XM_011527988.2:c.3015T>C | XP_011526290.2:p.Phe1005= | |
| XM_011527989.3:c.2979T>C | XP_011526291.2:p.Phe993= | |
| NM_000208.4:c.3018T>C MANE Select | NP_000199.2:p.Phe1006= | |
| NM_001079817.3:c.2982T>C | NP_001073285.1:p.Phe994= |