Linked Data
dbSNP Id:
rs764234836
ExAC:
5:138715370 G / A
gnomAD v2:
5-138715370-G-A
gnomAD v4:
5-139379681-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139379681G>A , CM000667.2:g.139379681G>A | GRCh38 |
| NC_000005.9:g.138715370G>A , CM000667.1:g.138715370G>A | GRCh37 |
| NC_000005.8:g.138743269G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348729.8:c.922C>T MANE Select | ENSP00000302701.4:p.Pro308Ser | |
| ENST00000348729.7:c.922C>T | ENSP00000302701.4:p.Pro308Ser | |
| ENST00000353963.7:c.934C>T | ENSP00000302851.5:p.Pro312Ser | |
| ENST00000504513.1:c.164+275C>T | ||
| ENST00000506512.1:n.533C>T | ||
| NM_005847.4:c.922C>T | NP_005838.3:p.Pro308Ser | |
| NM_152685.3:c.934C>T | NP_689898.2:p.Pro312Ser | |
| XM_005272148.3:c.1042C>T | XP_005272205.3:p.Pro348Ser | |
| XM_005272149.3:c.1030C>T | XP_005272206.3:p.Pro344Ser | |
| XM_006714741.2:c.1042C>T | XP_006714804.2:p.Pro348Ser | |
| XM_011543765.1:c.1042C>T | XP_011542067.1:p.Pro348Ser | |
| XM_011543766.1:c.823C>T | XP_011542068.1:p.Pro275Ser | |
| XM_011543767.1:c.727C>T | XP_011542069.1:p.Pro243Ser | |
| XM_011543768.1:c.607C>T | XP_011542070.1:p.Pro203Ser | |
| XM_011543769.1:c.217C>T | XP_011542071.1:p.Pro73Ser | |
| XM_005272149.4:c.1030C>T | XP_005272206.3:p.Pro344Ser | |
| XM_011543765.2:c.1042C>T | XP_011542067.1:p.Pro348Ser | |
| NM_005847.5:c.922C>T MANE Select | NP_005838.3:p.Pro308Ser | |
| NM_152685.4:c.934C>T | NP_689898.2:p.Pro312Ser |