Linked Data
dbSNP Id:
rs367642400
gnomAD v2:
19-7125497-A-G
gnomAD v3:
19-7125486-A-G
gnomAD v4:
19-7125486-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125486A>G , CM000681.2:g.7125486A>G | GRCh38 |
| NC_000019.9:g.7125497A>G , CM000681.1:g.7125497A>G | GRCh37 |
| NC_000019.8:g.7076497A>G | NCBI36 |
| NG_008852.2:g.173515T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3055T>C MANE Select | ENSP00000303830.4:p.Ser1019Pro | |
| ENST00000302850.9:c.3055T>C | ENSP00000303830.4:p.Ser1019Pro | |
| ENST00000341500.9:c.3019T>C | ENSP00000342838.4:p.Ser1007Pro | |
| NM_000208.2:c.3055T>C | NP_000199.2:p.Ser1019Pro | |
| NM_000208.3:c.3055T>C | NP_000199.2:p.Ser1019Pro | |
| NM_001079817.1:c.3019T>C | NP_001073285.1:p.Ser1007Pro | |
| NM_001079817.2:c.3019T>C | NP_001073285.1:p.Ser1007Pro | |
| XM_011527988.1:c.3130T>C | XP_011526290.1:p.Ser1044Pro | |
| XM_011527989.1:c.3094T>C | XP_011526291.1:p.Ser1032Pro | |
| XM_011527988.2:c.3052T>C | XP_011526290.2:p.Ser1018Pro | |
| XM_011527989.3:c.3016T>C | XP_011526291.2:p.Ser1006Pro | |
| NM_000208.4:c.3055T>C MANE Select | NP_000199.2:p.Ser1019Pro | |
| NM_001079817.3:c.3019T>C | NP_001073285.1:p.Ser1007Pro |