Linked Data
ClinVar Variation Id:
1800979
ClinVar RCV Id:
RCV002462576
dbSNP Id:
rs141157381
ExAC:
2:26690267 G / A
gnomAD v2:
2-26690267-G-A
gnomAD v4:
2-26467399-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26467399G>A , CM000664.2:g.26467399G>A | GRCh38 |
| NC_000002.11:g.26690267G>A , CM000664.1:g.26690267G>A | GRCh37 |
| NC_000002.10:g.26543771G>A | NCBI36 |
| NG_009937.1:g.96300C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.4193C>T MANE Select | ENSP00000272371.2:p.Pro1398Leu | |
| ENST00000339598.8:c.1892C>T MANE Plus Clinical | ENSP00000344521.3:p.Pro631Leu | |
| ENST00000402415.8:c.1952C>T | ENSP00000383906.4:p.Pro651Leu | |
| ENST00000272371.6:c.4193C>T | ENSP00000272371.2:p.Pro1398Leu | |
| ENST00000338581.10:c.1892C>T | ENSP00000345137.6:p.Pro631Leu | |
| ENST00000339598.7:c.1892C>T | ENSP00000344521.3:p.Pro631Leu | |
| ENST00000402415.7:c.2123C>T | ENSP00000383906.3:p.Pro708Leu | |
| ENST00000403946.7:c.4193C>T | ENSP00000385255.3:p.Pro1398Leu | |
| NM_001287489.1:c.4193C>T | NP_001274418.1:p.Pro1398Leu | |
| NM_004802.3:c.1892C>T | NP_004793.2:p.Pro631Leu | |
| NM_194248.2:c.4193C>T | NP_919224.1:p.Pro1398Leu | |
| NM_194322.2:c.2123C>T | NP_919303.1:p.Pro708Leu | |
| NM_194323.2:c.1892C>T | NP_919304.1:p.Pro631Leu | |
| XM_005264644.2:c.4178C>T | XP_005264701.1:p.Pro1393Leu | |
| XM_011533185.1:c.4238C>T | XP_011531487.1:p.Pro1413Leu | |
| XM_017005338.1:c.4133C>T | XP_016860827.1:p.Pro1378Leu | |
| NM_001287489.2:c.4193C>T | NP_001274418.1:p.Pro1398Leu | |
| NM_004802.4:c.1892C>T | NP_004793.2:p.Pro631Leu | |
| NM_194248.3:c.4193C>T MANE Select | NP_919224.1:p.Pro1398Leu | |
| NM_194322.3:c.2123C>T | NP_919303.1:p.Pro708Leu | |
| NM_194323.3:c.1892C>T MANE Plus Clinical | NP_919304.1:p.Pro631Leu |