Linked Data
ClinVar Variation Id:
217424
ClinVar RCV Id:
RCV000201297
RCV000666553
RCV000622824
RCV001276623
RCV000735222
RCV001193476
RCV001808558
RCV002243878
dbSNP Id:
rs61753219
ExAC:
6:42946068 G / A
gnomAD v2:
6-42946068-G-A
gnomAD v3:
6-42978330-G-A
gnomAD v4:
6-42978330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42978330G>A , CM000668.2:g.42978330G>A | GRCh38 |
| NC_000006.11:g.42946068G>A , CM000668.1:g.42946068G>A | GRCh37 |
| NC_000006.10:g.43054046G>A | NCBI36 |
| NG_008370.1:g.5914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.821C>T MANE Select | ENSP00000303511.8:p.Pro274Leu | |
| ENST00000244546.4:c.821C>T | ENSP00000244546.4:p.Pro274Leu | |
| ENST00000304611.12:c.821C>T | ENSP00000303511.8:p.Pro274Leu | |
| NM_000287.3:c.821C>T | NP_000278.3:p.Pro274Leu | |
| NM_001316313.1:c.618+203C>T | NP_001303242.1:n.618+203C>T | |
| NR_133009.1:n.914C>T | ||
| XM_011514661.1:c.821C>T | XP_011512963.1:p.Pro274Leu | |
| XR_926246.1:n.914C>T | ||
| XM_011514661.2:c.821C>T | XP_011512963.1:p.Pro274Leu | |
| XR_001743466.2:n.1895C>T | ||
| NM_000287.4:c.821C>T MANE Select | NP_000278.3:p.Pro274Leu | |
| NM_001316313.2:c.618+203C>T | NP_001303242.1:n.618+203C>T | |
| NR_133009.2:n.852C>T |