Linked Data
ClinVar Variation Id:
1506027
ClinVar RCV Id:
RCV002035894
dbSNP Id:
rs374209544
ExAC:
8:116426412 T / G
gnomAD v2:
8-116426412-T-G
gnomAD v3:
8-115414184-T-G
gnomAD v4:
8-115414184-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.115414184T>G , CM000670.2:g.115414184T>G | GRCh38 |
| NC_000008.10:g.116426412T>G , CM000670.1:g.116426412T>G | GRCh37 |
| NC_000008.9:g.116495588T>G | NCBI36 |
| NG_012383.3:g.259818A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395715.8:c.3724A>C MANE Select | ENSP00000379065.3:p.Met1242Leu | |
| ENST00000640765.1:c.3685A>C | ENSP00000492037.1:p.Met1229Leu | |
| ENST00000220888.9:c.3685A>C | ENSP00000220888.5:p.Met1229Leu | |
| ENST00000395715.7:c.3724A>C | ENSP00000379065.3:p.Met1242Leu | |
| ENST00000519076.5:c.2947A>C | ENSP00000428910.1:p.Met983Leu | |
| ENST00000520276.5:c.3697A>C | ENSP00000428680.1:p.Met1233Leu | |
| NM_001282902.2:c.3697A>C | NP_001269831.1:p.Met1233Leu | |
| NM_001282903.2:c.3703A>C | NP_001269832.1:p.Met1235Leu | |
| NM_014112.4:c.3724A>C | NP_054831.2:p.Met1242Leu | |
| XM_005251049.2:c.3685A>C | XP_005251106.1:p.Met1229Leu | |
| XM_006716625.1:c.3724A>C | XP_006716688.1:p.Met1242Leu | |
| XM_011517264.1:c.3724A>C | XP_011515566.1:p.Met1242Leu | |
| XM_011517265.1:c.3724A>C | XP_011515567.1:p.Met1242Leu | |
| XM_011517266.1:c.3724A>C | XP_011515568.1:p.Met1242Leu | |
| XM_011517267.1:c.3703A>C | XP_011515569.1:p.Met1235Leu | |
| XM_011517268.1:c.3685A>C | XP_011515570.1:p.Met1229Leu | |
| NM_001330599.1:c.3685A>C | NP_001317528.1:p.Met1229Leu | |
| XM_011517264.2:c.3724A>C | XP_011515566.1:p.Met1242Leu | |
| XM_011517266.3:c.3724A>C | XP_011515568.1:p.Met1242Leu | |
| XM_011517268.2:c.3685A>C | XP_011515570.1:p.Met1229Leu | |
| NM_001282902.3:c.3697A>C | NP_001269831.1:p.Met1233Leu | |
| NM_001282903.3:c.3703A>C | NP_001269832.1:p.Met1235Leu | |
| NM_001330599.2:c.3685A>C | NP_001317528.1:p.Met1229Leu | |
| NM_014112.5:c.3724A>C MANE Select | NP_054831.2:p.Met1242Leu |