Linked Data
ClinVar Variation Id:
2942127
dbSNP Id:
rs779141145
ExAC:
2:121708822 C / T
gnomAD v2:
2-121708822-C-T
gnomAD v3:
2-120951246-C-T
gnomAD v4:
2-120951246-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120951246C>T , CM000664.2:g.120951246C>T | GRCh38 |
| NC_000002.11:g.121708822C>T , CM000664.1:g.121708822C>T | GRCh37 |
| NC_000002.10:g.121425292C>T | NCBI36 |
| NG_009030.1:g.158956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.258C>T MANE Select | ENSP00000354586.5:p.Pro86= | |
| ENST00000452319.6:c.258C>T | ENSP00000390436.1:p.Pro86= | |
| ENST00000482119.6:c.258C>T | ENSP00000502423.1:p.Pro86= | |
| ENST00000314490.15:c.-139-19147C>T | ENSP00000312694.12:n.-139-19147C>T | |
| ENST00000341310.10:c.149-19147C>T | ENSP00000344473.6:n.149-19147C>T | |
| ENST00000360874.10:c.231-17468C>T | ENSP00000441454.1:n.231-17468C>T | |
| ENST00000361492.8:c.258C>T | ENSP00000354586.4:p.Pro86= | |
| ENST00000433812.1:c.128C>T | ENSP00000402383.1:p.Pro43Leu | |
| ENST00000435313.6:n.283C>T | ||
| ENST00000437950.5:c.149-19147C>T | ENSP00000415773.1:n.149-19147C>T | |
| ENST00000438299.5:c.149-19147C>T | ENSP00000400593.1:n.149-19147C>T | |
| ENST00000445186.5:c.149-19147C>T | ENSP00000397488.1:n.149-19147C>T | |
| ENST00000452319.5:c.258C>T | ENSP00000390436.1:p.Pro86= | |
| ENST00000452692.5:c.149-19147C>T | ENSP00000403715.1:n.149-19147C>T | |
| ENST00000472722.5:n.347C>T | ||
| ENST00000482119.5:n.347C>T | ||
| NM_005270.4:c.258C>T | NP_005261.2:p.Pro86= | |
| XM_006712422.1:c.258C>T | XP_006712485.1:p.Pro86= | |
| XM_011510969.1:c.240C>T | XP_011509271.1:p.Pro80= | |
| XM_011510970.1:c.117C>T | XP_011509272.1:p.Pro39= | |
| XM_011510971.1:c.63C>T | XP_011509273.1:p.Pro21= | |
| XM_011510972.1:c.63C>T | XP_011509274.1:p.Pro21= | |
| XM_011510973.1:c.-118C>T | XP_011509275.1:n.-118C>T | |
| XM_011510974.1:c.-118C>T | XP_011509276.1:n.-118C>T | |
| XM_006712422.3:c.258C>T | XP_006712485.1:p.Pro86= | |
| XM_011510969.2:c.510C>T | XP_011509271.2:p.Pro170= | |
| XM_011510970.2:c.117C>T | XP_011509272.1:p.Pro39= | |
| XM_011510971.2:c.63C>T | XP_011509273.1:p.Pro21= | |
| XM_011510972.2:c.159C>T | XP_011509274.2:p.Pro53= | |
| XM_011510973.2:c.-118C>T | XP_011509275.1:n.-118C>T | |
| XM_011510974.2:c.-118C>T | XP_011509276.1:n.-118C>T | |
| XM_017003818.1:c.510C>T | XP_016859307.1:p.Pro170= | |
| XM_024452794.1:c.258C>T | XP_024308562.1:p.Pro86= | |
| XM_024452795.1:c.258C>T | XP_024308563.1:p.Pro86= | |
| NM_001371271.1:c.258C>T | NP_001358200.1:p.Pro86= | |
| NM_001374353.1:c.258C>T MANE Select | NP_001361282.1:p.Pro86= | |
| NM_001374354.1:c.-118C>T | NP_001361283.1:n.-118C>T | |
| NM_005270.5:c.258C>T | NP_005261.2:p.Pro86= |