Linked Data
ClinVar Variation Id:
449194
dbSNP Id:
rs148261539
ExAC:
14:92439151 G / T
gnomAD v2:
14-92439151-G-T
gnomAD v3:
14-91972807-G-T
gnomAD v4:
14-91972807-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91972807G>T , CM000676.2:g.91972807G>T | GRCh38 |
| NC_000014.8:g.92439151G>T , CM000676.1:g.92439151G>T | GRCh37 |
| NC_000014.7:g.91508904G>T | NCBI36 |
| NG_016970.1:g.72253C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.5629C>A MANE Select | ENSP00000267622.4:p.Pro1877Thr | |
| ENST00000554357.5:c.4775C>A | ||
| NM_004239.3:c.5629C>A | NP_004230.2:p.Pro1877Thr | |
| XM_005268214.2:c.4303C>A | XP_005268271.1:p.Pro1435Thr | |
| XM_005268215.2:c.2599C>A | XP_005268272.1:p.Pro867Thr | |
| XM_006720321.2:c.5626C>A | XP_006720384.1:p.Pro1876Thr | |
| NM_001321851.1:c.5626C>A | NP_001308780.1:p.Pro1876Thr | |
| NM_004239.4:c.5629C>A MANE Select | NP_004230.2:p.Pro1877Thr | |
| XM_017021787.2:c.4924C>A | XP_016877276.1:p.Pro1642Thr | |
| XM_017021788.2:c.4303C>A | XP_016877277.1:p.Pro1435Thr |