Linked Data
ClinVar Variation Id:
2999003
ClinVar RCV Id:
RCV003851634
dbSNP Id:
rs1399694239
gnomAD v2:
8-41790720-G-A
gnomAD v4:
8-41933202-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933202G>A , CM000670.2:g.41933202G>A | GRCh38 |
| NC_000008.10:g.41790720G>A , CM000670.1:g.41790720G>A | GRCh37 |
| NC_000008.9:g.41909877G>A | NCBI36 |
| NG_042093.1:g.123825C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.5018C>T MANE Select | ENSP00000265713.2:p.Pro1673Leu | |
| ENST00000396930.4:c.5018C>T | ENSP00000380136.3:p.Pro1673Leu | |
| ENST00000406337.6:c.5024C>T | ENSP00000385888.2:p.Pro1675Leu | |
| ENST00000648335.1:c.5018C>T | ENSP00000497086.1:p.Pro1673Leu | |
| ENST00000649817.1:c.3699C>T | ||
| ENST00000265713.6:c.5018C>T | ENSP00000265713.2:p.Pro1673Leu | |
| ENST00000396930.3:c.5018C>T | ENSP00000380136.3:p.Pro1673Leu | |
| ENST00000406337.5:c.5018C>T | ENSP00000385888.1:p.Pro1673Leu | |
| NM_001099412.1:c.5018C>T | NP_001092882.1:p.Pro1673Leu | |
| NM_001099413.1:c.5018C>T | NP_001092883.1:p.Pro1673Leu | |
| NM_006766.3:c.5018C>T | NP_006757.2:p.Pro1673Leu | |
| NM_006766.4:c.5018C>T | NP_006757.2:p.Pro1673Leu | |
| XM_011544656.1:c.5150C>T | XP_011542958.1:p.Pro1717Leu | |
| XM_011544657.1:c.5150C>T | XP_011542959.1:p.Pro1717Leu | |
| XM_011544658.1:c.5150C>T | XP_011542960.1:p.Pro1717Leu | |
| XM_011544659.1:c.5129C>T | XP_011542961.1:p.Pro1710Leu | |
| XM_011544660.1:c.5036C>T | XP_011542962.1:p.Pro1679Leu | |
| XM_011544656.2:c.5150C>T | XP_011542958.1:p.Pro1717Leu | |
| XM_011544657.3:c.5150C>T | XP_011542959.1:p.Pro1717Leu | |
| XM_011544658.3:c.5150C>T | XP_011542960.1:p.Pro1717Leu | |
| XM_011544659.2:c.5129C>T | XP_011542961.1:p.Pro1710Leu | |
| XM_017013863.1:c.5018C>T | XP_016869352.1:p.Pro1673Leu | |
| XM_017013864.2:c.5018C>T | XP_016869353.1:p.Pro1673Leu | |
| XM_024447285.1:c.3590C>T | XP_024303053.1:p.Pro1197Leu | |
| NM_006766.5:c.5018C>T MANE Select | NP_006757.2:p.Pro1673Leu |