Linked Data
ClinVar Variation Id:
3003331
ClinVar RCV Id:
RCV003867946
dbSNP Id:
rs771014333
ExAC:
8:61765657 T / C
gnomAD v2:
8-61765657-T-C
gnomAD v4:
8-60853098-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60853098T>C , CM000670.2:g.60853098T>C | GRCh38 |
| NC_000008.10:g.61765657T>C , CM000670.1:g.61765657T>C | GRCh37 |
| NC_000008.9:g.61928211T>C | NCBI36 |
| NG_007009.1:g.179319T>C , LRG_176:g.179319T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695853.1:c.6373T>C | ENSP00000512218.1:p.Leu2125= | |
| ENST00000423902.7:c.6373T>C MANE Select | ENSP00000392028.1:p.Leu2125= | |
| ENST00000423902.6:c.6373T>C | ENSP00000392028.1:p.Leu2125= | |
| ENST00000524602.5:c.1717-9131T>C | ENSP00000437061.1:n.1717-9131T>C | |
| NM_001316690.1:c.1717-9131T>C | NP_001303619.1:n.1717-9131T>C | |
| NM_017780.3:c.6373T>C | NP_060250.2:p.Leu2125= | |
| XM_011517553.1:c.6463T>C | XP_011515855.1:p.Leu2155= | |
| XM_011517554.1:c.6463T>C | XP_011515856.1:p.Leu2155= | |
| XM_011517555.1:c.6463T>C | XP_011515857.1:p.Leu2155= | |
| XM_011517556.1:c.6463T>C | XP_011515858.1:p.Leu2155= | |
| XM_011517557.1:c.4450T>C | XP_011515859.1:p.Leu1484= | |
| XM_011517558.1:c.4000T>C | XP_011515860.1:p.Leu1334= | |
| XM_011517559.1:c.3208T>C | XP_011515861.1:p.Leu1070= | |
| XM_011517553.2:c.6463T>C | XP_011515855.1:p.Leu2155= | |
| XM_011517554.3:c.6463T>C | XP_011515856.1:p.Leu2155= | |
| XM_011517555.2:c.6463T>C | XP_011515857.1:p.Leu2155= | |
| XM_017013612.1:c.6463T>C | XP_016869101.1:p.Leu2155= | |
| XM_017013613.1:c.6373T>C | XP_016869102.1:p.Leu2125= | |
| NM_017780.4:c.6373T>C MANE Select | NP_060250.2:p.Leu2125= |