Linked Data
ClinVar Variation Id:
539144
dbSNP Id:
rs141650477
ExAC:
17:27065703 A / C
gnomAD v2:
17-27065703-A-C
gnomAD v3:
17-28738685-A-C
gnomAD v4:
17-28738685-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28738685A>C , CM000679.2:g.28738685A>C | GRCh38 |
| NC_000017.10:g.27065703A>C , CM000679.1:g.27065703A>C | GRCh37 |
| NC_000017.9:g.24089830A>C | NCBI36 |
| NG_012263.1:g.14872A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268766.11:c.1237A>C MANE Select | ENSP00000268766.6:p.Met413Leu | |
| ENST00000268766.10:c.1237A>C | ENSP00000268766.6:p.Met413Leu | |
| ENST00000543014.1:c.*14A>C | ENSP00000465859.1:n.*14A>C | |
| NM_178170.2:c.1237A>C | NP_835464.1:p.Met413Leu | |
| XM_011524638.1:c.1348A>C | XP_011522940.1:p.Met450Leu | |
| XM_011524639.1:c.1321A>C | XP_011522941.1:p.Met441Leu | |
| XM_011524640.1:c.1309A>C | XP_011522942.1:p.Met437Leu | |
| XM_011524641.1:c.1204A>C | XP_011522943.1:p.Met402Leu | |
| XM_011524642.1:c.1204A>C | XP_011522944.1:p.Met402Leu | |
| XM_011524643.1:c.1204A>C | XP_011522945.1:p.Met402Leu | |
| XM_011524644.1:c.1027A>C | XP_011522946.1:p.Met343Leu | |
| XM_011524645.1:c.*10A>C | XP_011522947.1:n.*10A>C | |
| XR_934448.1:n.1521A>C | ||
| NM_178170.3:c.1237A>C MANE Select | NP_835464.1:p.Met413Leu | |
| XM_011524638.3:c.1348A>C | XP_011522940.1:p.Met450Leu | |
| XM_011524640.3:c.1309A>C | XP_011522942.1:p.Met437Leu | |
| XM_017024499.2:c.1276A>C | XP_016879988.1:p.Met426Leu | |
| XM_017024500.2:c.1159A>C | XP_016879989.1:p.Met387Leu | |
| XM_017024501.1:c.*10A>C | XP_016879990.1:n.*10A>C | |
| XR_001752497.2:n.1476A>C |