Linked Data
ClinVar Variation Id:
98241
ClinVar RCV Id:
RCV000084577
dbSNP Id:
rs63751122
gnomAD v4:
21-25891765-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25891765A>G , CM000683.2:g.25891765A>G | GRCh38 |
| NC_000021.8:g.27264077A>G , CM000683.1:g.27264077A>G | GRCh37 |
| NC_000021.7:g.26185948A>G | NCBI36 |
| NG_007376.1:g.284056T>C | |
| NG_007376.2:g.284364T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707132.1:n.2135T>C | ||
| ENST00000707133.1:n.565T>C | ||
| ENST00000707134.1:n.834T>C | ||
| ENST00000346798.8:c.2168T>C MANE Select | ENSP00000284981.4:p.Leu723Pro | |
| ENST00000346798.7:c.2168T>C | ENSP00000284981.4:p.Leu723Pro | |
| ENST00000348990.9:c.1943T>C | ENSP00000345463.5:p.Leu648Pro | |
| ENST00000354192.7:c.1775T>C | ENSP00000346129.3:p.Leu592Pro | |
| ENST00000357903.7:c.2111T>C | ENSP00000350578.3:p.Leu704Pro | |
| ENST00000358918.7:c.2114T>C | ENSP00000351796.3:p.Leu705Pro | |
| ENST00000359726.7:c.1838T>C | ENSP00000352760.4:p.Leu613Pro | |
| ENST00000439274.6:c.2000T>C | ENSP00000398879.2:p.Leu667Pro | |
| ENST00000440126.7:c.2096T>C | ENSP00000387483.2:p.Leu699Pro | |
| ENST00000464867.1:n.515T>C | ||
| NM_000484.3:c.2168T>C | NP_000475.1:p.Leu723Pro | |
| NM_001136016.3:c.2096T>C | NP_001129488.1:p.Leu699Pro | |
| NM_001136129.2:c.1775T>C | NP_001129601.1:p.Leu592Pro | |
| NM_001136130.2:c.2000T>C | NP_001129602.1:p.Leu667Pro | |
| NM_001136131.2:c.1838T>C | NP_001129603.1:p.Leu613Pro | |
| NM_001204301.1:c.2114T>C | NP_001191230.1:p.Leu705Pro | |
| NM_001204302.1:c.2057T>C | NP_001191231.1:p.Leu686Pro | |
| NM_001204303.1:c.1889T>C | NP_001191232.1:p.Leu630Pro | |
| NM_201413.2:c.2111T>C | NP_958816.1:p.Leu704Pro | |
| NM_201414.2:c.1943T>C | NP_958817.1:p.Leu648Pro | |
| NM_000484.4:c.2168T>C MANE Select | NP_000475.1:p.Leu723Pro | |
| NM_001136129.3:c.1775T>C | NP_001129601.1:p.Leu592Pro | |
| NM_001136130.3:c.2000T>C | NP_001129602.1:p.Leu667Pro | |
| NM_001204301.2:c.2114T>C | NP_001191230.1:p.Leu705Pro | |
| NM_001204302.2:c.2057T>C | NP_001191231.1:p.Leu686Pro | |
| NM_001204303.2:c.1889T>C | NP_001191232.1:p.Leu630Pro | |
| NM_201413.3:c.2111T>C | NP_958816.1:p.Leu704Pro | |
| NM_201414.3:c.1943T>C | NP_958817.1:p.Leu648Pro | |
| NM_001136131.3:c.1838T>C | NP_001129603.1:p.Leu613Pro | |
| NM_001385253.1:c.2000T>C | NP_001372182.1:p.Leu667Pro |