Linked Data
ClinVar Variation Id:
1600884
ClinVar RCV Id:
RCV002124758
dbSNP Id:
rs767553568
ExAC:
3:189582089 G / C
gnomAD v2:
3-189582089-G-C
gnomAD v3:
3-189864300-G-C
gnomAD v4:
3-189864300-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189864300G>C , CM000665.2:g.189864300G>C | GRCh38 |
| NC_000003.11:g.189582089G>C , CM000665.1:g.189582089G>C | GRCh37 |
| NC_000003.10:g.191064783G>C | NCBI36 |
| NG_007550.1:g.237874G>C | |
| NG_007550.2:g.237874G>C | |
| NG_007550.3:g.272555G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264731.8:c.648G>C MANE Select | ENSP00000264731.3:p.Met216Ile | |
| ENST00000354600.10:c.366G>C MANE Plus Clinical | ENSP00000346614.5:p.Met122Ile | |
| ENST00000264731.7:c.648G>C | ENSP00000264731.3:p.Met216Ile | |
| ENST00000320472.9:c.648G>C | ENSP00000317510.5:p.Met216Ile | |
| ENST00000354600.9:c.366G>C | ENSP00000346614.5:p.Met122Ile | |
| ENST00000392460.7:c.648G>C | ENSP00000376253.3:p.Met216Ile | |
| ENST00000392461.7:c.366G>C | ENSP00000376254.3:p.Met122Ile | |
| ENST00000392463.6:c.366G>C | ENSP00000376256.2:p.Met122Ile | |
| ENST00000418709.6:c.648G>C | ENSP00000407144.2:p.Met216Ile | |
| ENST00000437221.5:c.366G>C | ENSP00000392488.1:p.Met122Ile | |
| ENST00000440651.6:c.648G>C | ENSP00000394337.2:p.Met216Ile | |
| ENST00000449992.5:c.111G>C | ENSP00000387839.1:p.Met37Ile | |
| ENST00000456148.1:c.366G>C | ENSP00000389485.1:p.Met122Ile | |
| ENST00000460036.1:n.472G>C | ||
| NM_001114978.1:c.648G>C | NP_001108450.1:p.Met216Ile | |
| NM_001114979.1:c.648G>C | NP_001108451.1:p.Met216Ile | |
| NM_001114980.1:c.366G>C | NP_001108452.1:p.Met122Ile | |
| NM_001114981.1:c.366G>C | NP_001108453.1:p.Met122Ile | |
| NM_001114982.1:c.366G>C | NP_001108454.1:p.Met122Ile | |
| NM_003722.4:c.648G>C | NP_003713.3:p.Met216Ile | |
| XM_005247843.2:c.648G>C | XP_005247900.1:p.Met216Ile | |
| XM_005247844.3:c.597G>C | XP_005247901.1:p.Met199Ile | |
| XM_005247846.2:c.648G>C | XP_005247903.1:p.Met216Ile | |
| XM_011513251.1:c.645G>C | XP_011511553.1:p.Met215Ile | |
| XM_011513252.1:c.642G>C | XP_011511554.1:p.Met214Ile | |
| XM_011513253.1:c.609G>C | XP_011511555.1:p.Met203Ile | |
| NM_001329144.1:c.648G>C | NP_001316073.1:p.Met216Ile | |
| NM_001329145.1:c.366G>C | NP_001316074.1:p.Met122Ile | |
| NM_001329146.1:c.111G>C | NP_001316075.1:p.Met37Ile | |
| NM_001329148.1:c.648G>C | NP_001316077.1:p.Met216Ile | |
| NM_001329149.1:c.366G>C | NP_001316078.1:p.Met122Ile | |
| NM_001329150.1:c.111G>C | NP_001316079.1:p.Met37Ile | |
| NM_001329964.1:c.642G>C | NP_001316893.1:p.Met214Ile | |
| NM_003722.5:c.648G>C MANE Select | NP_003713.3:p.Met216Ile | |
| NM_001114978.2:c.648G>C | NP_001108450.1:p.Met216Ile | |
| NM_001114979.2:c.648G>C | NP_001108451.1:p.Met216Ile | |
| NM_001114980.2:c.366G>C MANE Plus Clinical | NP_001108452.1:p.Met122Ile | |
| NM_001114981.2:c.366G>C | NP_001108453.1:p.Met122Ile | |
| NM_001114982.2:c.366G>C | NP_001108454.1:p.Met122Ile | |
| NM_001329144.2:c.648G>C | NP_001316073.1:p.Met216Ile | |
| NM_001329145.2:c.366G>C | NP_001316074.1:p.Met122Ile | |
| NM_001329146.2:c.111G>C | NP_001316075.1:p.Met37Ile | |
| NM_001329148.2:c.648G>C | NP_001316077.1:p.Met216Ile | |
| NM_001329149.2:c.366G>C | NP_001316078.1:p.Met122Ile | |
| NM_001329150.2:c.111G>C | NP_001316079.1:p.Met37Ile | |
| NM_001329964.2:c.642G>C | NP_001316893.1:p.Met214Ile |