Linked Data
ClinVar Variation Id:
2494664
ClinVar RCV Id:
RCV003206600
dbSNP Id:
rs1053653882
gnomAD v3:
19-7125350-C-T
gnomAD v4:
19-7125350-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125350C>T , CM000681.2:g.7125350C>T | GRCh38 |
| NC_000019.9:g.7125361C>T , CM000681.1:g.7125361C>T | GRCh37 |
| NC_000019.8:g.7076361C>T | NCBI36 |
| NG_008852.2:g.173651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3191G>A MANE Select | ENSP00000303830.4:p.Ser1064Asn | |
| ENST00000302850.9:c.3191G>A | ENSP00000303830.4:p.Ser1064Asn | |
| ENST00000341500.9:c.3155G>A | ENSP00000342838.4:p.Ser1052Asn | |
| ENST00000593970.1:n.37G>A | ||
| NM_000208.2:c.3191G>A | NP_000199.2:p.Ser1064Asn | |
| NM_000208.3:c.3191G>A | NP_000199.2:p.Ser1064Asn | |
| NM_001079817.1:c.3155G>A | NP_001073285.1:p.Ser1052Asn | |
| NM_001079817.2:c.3155G>A | NP_001073285.1:p.Ser1052Asn | |
| XM_011527988.1:c.3266G>A | XP_011526290.1:p.Ser1089Asn | |
| XM_011527989.1:c.3230G>A | XP_011526291.1:p.Ser1077Asn | |
| XM_011527988.2:c.3188G>A | XP_011526290.2:p.Ser1063Asn | |
| XM_011527989.3:c.3152G>A | XP_011526291.2:p.Ser1051Asn | |
| NM_000208.4:c.3191G>A MANE Select | NP_000199.2:p.Ser1064Asn | |
| NM_001079817.3:c.3155G>A | NP_001073285.1:p.Ser1052Asn |