Linked Data
ClinVar Variation Id:
1316087
ClinVar RCV Id:
RCV001757534
dbSNP Id:
rs763611646
ExAC:
2:27424908 G / A
gnomAD v2:
2-27424908-G-A
gnomAD v3:
2-27202040-G-A
gnomAD v4:
2-27202040-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27202040G>A , CM000664.2:g.27202040G>A | GRCh38 |
| NC_000002.11:g.27424908G>A , CM000664.1:g.27424908G>A | GRCh37 |
| NC_000002.10:g.27278412G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310574.8:c.1310C>T MANE Select | ENSP00000310208.3:p.Pro437Leu | |
| ENST00000310574.7:c.1310C>T | ENSP00000310208.3:p.Pro437Leu | |
| ENST00000408041.5:c.1310C>T | ENSP00000384853.1:p.Pro437Leu | |
| ENST00000461319.5:n.248C>T | ||
| ENST00000461757.1:n.272C>T | ||
| ENST00000476319.1:n.726C>T | ||
| ENST00000481751.5:n.339C>T | ||
| ENST00000488743.6:n.1996C>T | ||
| ENST00000492069.5:n.517C>T | ||
| NM_021095.2:c.1310C>T | NP_066918.2:p.Pro437Leu | |
| NR_028323.1:n.2157C>T | ||
| XM_006712128.1:c.1310C>T | XP_006712191.1:p.Pro437Leu | |
| XM_006712129.1:c.1310C>T | XP_006712192.1:p.Pro437Leu | |
| XM_006712130.1:c.1310C>T | XP_006712193.1:p.Pro437Leu | |
| XM_011533144.1:c.1310C>T | XP_011531446.1:p.Pro437Leu | |
| XM_011533145.1:c.1310C>T | XP_011531447.1:p.Pro437Leu | |
| XM_011533146.1:c.641C>T | XP_011531448.1:p.Pro214Leu | |
| XR_939737.1:n.2157C>T | ||
| XM_006712128.2:c.1310C>T | XP_006712191.1:p.Pro437Leu | |
| XM_011533146.3:c.641C>T | XP_011531448.1:p.Pro214Leu | |
| XM_017005216.1:c.683C>T | XP_016860705.1:p.Pro228Leu | |
| XM_024453206.1:c.1310C>T | XP_024308974.1:p.Pro437Leu | |
| XM_024453207.1:c.1310C>T | XP_024308975.1:p.Pro437Leu | |
| XR_001739022.1:n.1606C>T | ||
| XR_001739023.1:n.1536C>T | ||
| XR_001739024.2:n.1603C>T | ||
| XR_001739025.2:n.1542C>T | ||
| XR_002959356.1:n.1840C>T | ||
| XR_002959357.1:n.1775C>T | ||
| XR_002959358.1:n.1775C>T | ||
| NM_021095.3:c.1310C>T | NP_066918.2:p.Pro437Leu | |
| NM_021095.4:c.1310C>T MANE Select | NP_066918.2:p.Pro437Leu | |
| NR_028323.2:n.2118C>T |