Linked Data
ClinVar Variation Id:
222073
ClinVar RCV Id:
RCV000210426
dbSNP Id:
rs869312873
gnomAD v3:
13-101089846-C-T
gnomAD v4:
13-101089846-C-T
PubMed:
PMID:26923739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101089846C>T , CM000675.2:g.101089846C>T | GRCh38 |
| NC_000013.10:g.101742197C>T , CM000675.1:g.101742197C>T | GRCh37 |
| NC_000013.9:g.100540198C>T | NCBI36 |
| NG_053176.1:g.332361G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251127.11:c.3390G>A MANE Select | ENSP00000251127.6:p.Pro1130= | |
| ENST00000648359.1:c.3390G>A | ENSP00000497465.1:p.Pro1130= | |
| ENST00000675150.1:c.3111G>A | ENSP00000502680.1:p.Pro1037= | |
| ENST00000675332.1:c.3477G>A | ENSP00000501955.1:p.Pro1159= | |
| ENST00000676315.1:c.3303G>A | ENSP00000501603.1:p.Pro1101= | |
| ENST00000251127.10:c.3390G>A | ENSP00000251127.6:p.Pro1130= | |
| NM_052867.2:c.3390G>A | NP_443099.1:p.Pro1130= | |
| XM_011521067.1:c.3447G>A | XP_011519369.1:p.Pro1149= | |
| XM_011521068.1:c.3390G>A | XP_011519370.1:p.Pro1130= | |
| XM_011521069.1:c.3360G>A | XP_011519371.1:p.Pro1120= | |
| XM_011521070.1:c.3168G>A | XP_011519372.1:p.Pro1056= | |
| NM_001350748.1:c.3477G>A | NP_001337677.1:p.Pro1159= | |
| NM_001350749.1:c.3390G>A | NP_001337678.1:p.Pro1130= | |
| NM_001350750.1:c.3303G>A | NP_001337679.1:p.Pro1101= | |
| NM_001350751.1:c.3303G>A | NP_001337680.1:p.Pro1101= | |
| NM_052867.3:c.3390G>A | NP_443099.1:p.Pro1130= | |
| XM_011521067.2:c.3447G>A | XP_011519369.1:p.Pro1149= | |
| XM_011521069.2:c.3360G>A | XP_011519371.1:p.Pro1120= | |
| XM_017020536.2:c.2943G>A | XP_016876025.1:p.Pro981= | |
| XM_017020537.1:c.2625G>A | XP_016876026.1:p.Pro875= | |
| XM_024449336.1:c.3534G>A | XP_024305104.1:p.Pro1178= | |
| NM_052867.4:c.3390G>A MANE Select | NP_443099.1:p.Pro1130= | |
| NM_001350748.2:c.3477G>A | NP_001337677.1:p.Pro1159= | |
| NM_001350749.2:c.3390G>A | NP_001337678.1:p.Pro1130= | |
| NM_001350750.2:c.3303G>A | NP_001337679.1:p.Pro1101= | |
| NM_001350751.2:c.3303G>A | NP_001337680.1:p.Pro1101= |