Linked Data
ClinVar Variation Id:
2893319
ClinVar RCV Id:
RCV003641961
dbSNP Id:
rs1256882348
gnomAD v3:
1-111776242-C-T
gnomAD v4:
1-111776242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111776242C>T , CM000663.2:g.111776242C>T | GRCh38 |
| NC_000001.10:g.112318864C>T , CM000663.1:g.112318864C>T | GRCh37 |
| NC_000001.9:g.112120387C>T | NCBI36 |
| NG_032011.2:g.217914G>A , LRG_445:g.217914G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302127.5:c.1803G>A MANE Select | ENSP00000306923.4:p.Leu601= | |
| ENST00000302127.4:c.1746G>A | ENSP00000306923.3:p.Leu582= | |
| ENST00000315987.6:c.1803G>A | ENSP00000319591.2:p.Leu601= | |
| ENST00000369697.5:c.1746G>A | ENSP00000358711.1:p.Leu582= | |
| NM_004980.4:c.1803G>A , LRG_445t1:c.1803G>A | NP_004971.2:p.Leu601= | |
| NM_172198.2:c.1746G>A | NP_751948.1:p.Leu582= | |
| XM_005270851.3:c.1803G>A | XP_005270908.1:p.Leu601= | |
| XM_006710629.2:c.1803G>A | XP_006710692.1:p.Leu601= | |
| XM_006710630.2:c.1746G>A | XP_006710693.1:p.Leu582= | |
| XM_006710631.2:c.*22G>A | XP_006710694.1:n.*22G>A | |
| XM_005270851.4:c.1803G>A | XP_005270908.1:p.Leu601= | |
| XM_006710629.4:c.1803G>A | XP_006710692.1:p.Leu601= | |
| XM_006710630.3:c.1746G>A | XP_006710693.1:p.Leu582= | |
| XM_006710631.3:c.*22G>A | XP_006710694.1:n.*22G>A | |
| XM_017001244.2:c.1803G>A | XP_016856733.1:p.Leu601= | |
| NM_001378969.1:c.1803G>A MANE Select | NP_001365898.1:p.Leu601= | |
| NM_001378970.1:c.1746G>A | NP_001365899.1:p.Leu582= | |
| NM_004980.5:c.1803G>A | NP_004971.2:p.Leu601= | |
| NM_172198.3:c.1746G>A | NP_751948.1:p.Leu582= |