Linked Data
dbSNP Id:
rs764030120
ExAC:
19:7267656 A / T
gnomAD v2:
19-7267656-A-T
gnomAD v4:
19-7267645-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7267645A>T , CM000681.2:g.7267645A>T | GRCh38 |
| NC_000019.9:g.7267656A>T , CM000681.1:g.7267656A>T | GRCh37 |
| NC_000019.8:g.7218656A>T | NCBI36 |
| NG_008852.2:g.31356T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.352T>A MANE Select | ENSP00000303830.4:p.Tyr118Asn | |
| ENST00000302850.9:c.352T>A | ENSP00000303830.4:p.Tyr118Asn | |
| ENST00000341500.9:c.352T>A | ENSP00000342838.4:p.Tyr118Asn | |
| ENST00000598216.1:n.327T>A | ||
| NM_000208.2:c.352T>A | NP_000199.2:p.Tyr118Asn | |
| NM_000208.3:c.352T>A | NP_000199.2:p.Tyr118Asn | |
| NM_001079817.1:c.352T>A | NP_001073285.1:p.Tyr118Asn | |
| NM_001079817.2:c.352T>A | NP_001073285.1:p.Tyr118Asn | |
| XM_011527988.1:c.430T>A | XP_011526290.1:p.Tyr144Asn | |
| XM_011527989.1:c.430T>A | XP_011526291.1:p.Tyr144Asn | |
| XM_011527988.2:c.352T>A | XP_011526290.2:p.Tyr118Asn | |
| XM_011527989.3:c.352T>A | XP_011526291.2:p.Tyr118Asn | |
| NM_000208.4:c.352T>A MANE Select | NP_000199.2:p.Tyr118Asn | |
| NM_001079817.3:c.352T>A | NP_001073285.1:p.Tyr118Asn |