Linked Data
ClinVar Variation Id:
158317
ClinVar RCV Id:
RCV000145693
RCV000203938
RCV000677330
RCV002312634
RCV002498662
RCV001528239
RCV001849320
RCV003891676
dbSNP Id:
rs192129249
ExAC:
8:61769418 A / C
gnomAD v2:
8-61769418-A-C
gnomAD v3:
8-60856859-A-C
gnomAD v4:
8-60856859-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60856859A>C , CM000670.2:g.60856859A>C | GRCh38 |
| NC_000008.10:g.61769418A>C , CM000670.1:g.61769418A>C | GRCh37 |
| NC_000008.9:g.61931972A>C | NCBI36 |
| NG_007009.1:g.183080A>C , LRG_176:g.183080A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.755A>C | ||
| ENST00000695853.1:c.*638A>C | ENSP00000512218.1:n.*638A>C | |
| ENST00000423902.7:c.7579A>C MANE Select | ENSP00000392028.1:p.Met2527Leu | |
| ENST00000423902.6:c.7579A>C | ENSP00000392028.1:p.Met2527Leu | |
| ENST00000524602.5:c.1717-5370A>C | ENSP00000437061.1:n.1717-5370A>C | |
| ENST00000529472.1:n.760A>C | ||
| ENST00000531695.1:n.3A>C | ||
| NM_001316690.1:c.1717-5370A>C | NP_001303619.1:n.1717-5370A>C | |
| NM_017780.3:c.7579A>C | NP_060250.2:p.Met2527Leu | |
| XM_011517553.1:c.7669A>C | XP_011515855.1:p.Met2557Leu | |
| XM_011517554.1:c.7669A>C | XP_011515856.1:p.Met2557Leu | |
| XM_011517555.1:c.7666A>C | XP_011515857.1:p.Met2556Leu | |
| XM_011517556.1:c.7669A>C | XP_011515858.1:p.Met2557Leu | |
| XM_011517557.1:c.5656A>C | XP_011515859.1:p.Met1886Leu | |
| XM_011517558.1:c.5206A>C | XP_011515860.1:p.Met1736Leu | |
| XM_011517559.1:c.4414A>C | XP_011515861.1:p.Met1472Leu | |
| XM_011517553.2:c.7669A>C | XP_011515855.1:p.Met2557Leu | |
| XM_011517554.3:c.7669A>C | XP_011515856.1:p.Met2557Leu | |
| XM_011517555.2:c.7666A>C | XP_011515857.1:p.Met2556Leu | |
| XM_017013612.1:c.7669A>C | XP_016869101.1:p.Met2557Leu | |
| XM_017013613.1:c.7576A>C | XP_016869102.1:p.Met2526Leu | |
| NM_017780.4:c.7579A>C MANE Select | NP_060250.2:p.Met2527Leu |