Linked Data
ClinVar Variation Id:
1485949
ClinVar RCV Id:
RCV002001118
dbSNP Id:
rs150127972
ExAC:
1:154437666 C / T
gnomAD v2:
1-154437666-C-T
gnomAD v3:
1-154465190-C-T
gnomAD v4:
1-154465190-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154465190C>T , CM000663.2:g.154465190C>T | GRCh38 |
| NC_000001.10:g.154437666C>T , CM000663.1:g.154437666C>T | GRCh37 |
| NC_000001.9:g.152704290C>T | NCBI36 |
| NG_012087.1:g.64998C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.1217C>T MANE Select | ENSP00000357470.3:p.Pro406Leu | |
| ENST00000344086.8:c.*25C>T | ENSP00000340589.4:n.*25C>T | |
| ENST00000368485.7:c.1217C>T | ENSP00000357470.3:p.Pro406Leu | |
| ENST00000502679.1:n.530C>T | ||
| ENST00000507256.1:n.415C>T | ||
| NM_000565.3:c.1217C>T | NP_000556.1:p.Pro406Leu | |
| NM_181359.2:c.*25C>T | NP_852004.1:n.*25C>T | |
| XM_005245139.1:c.981C>T | XP_005245196.1:p.Ser327= | |
| XM_005245140.1:c.*58C>T | XP_005245197.1:n.*58C>T | |
| XM_006711298.1:c.1265C>T | XP_006711361.1:p.Pro422Leu | |
| XM_006711299.2:c.*25C>T | XP_006711362.1:n.*25C>T | |
| XM_005245139.2:c.981C>T | XP_005245196.1:p.Ser327= | |
| XM_005245140.3:c.*58C>T | XP_005245197.1:n.*58C>T | |
| XM_006711298.2:c.1265C>T | XP_006711361.1:p.Pro422Leu | |
| XM_006711299.4:c.*25C>T | XP_006711362.1:n.*25C>T | |
| XM_017001199.2:c.1364C>T | XP_016856688.1:p.Pro455Leu | |
| XM_017001200.2:c.1316C>T | XP_016856689.1:p.Pro439Leu | |
| XM_017001201.2:c.*58C>T | XP_016856690.1:n.*58C>T | |
| NM_000565.4:c.1217C>T MANE Select | NP_000556.1:p.Pro406Leu | |
| NM_181359.3:c.*25C>T | NP_852004.1:n.*25C>T | |
| NM_001382769.1:c.1316C>T | NP_001369698.1:p.Pro439Leu | |
| NM_001382770.1:c.1310C>T | NP_001369699.1:p.Pro437Leu | |
| NM_001382771.1:c.1265C>T | NP_001369700.1:p.Pro422Leu | |
| NM_001382772.1:c.1211C>T | NP_001369701.1:p.Pro404Leu | |
| NM_001382773.1:c.*25C>T | NP_001369702.1:n.*25C>T | |
| NM_001382774.1:c.857C>T | NP_001369703.1:p.Pro286Leu |