Linked Data
dbSNP Id:
rs2072682358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860512T>C , CM000685.2:g.154860512T>C | GRCh38 |
| NC_000023.10:g.154088787T>C , CM000685.1:g.154088787T>C | GRCh37 |
| NC_000023.9:g.153741981T>C | NCBI36 |
| NG_011403.1:g.167212A>G | |
| NG_011403.2:g.167212A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6820A>G MANE Select | ENSP00000353393.4:p.Met2274Val | |
| ENST00000644698.1:c.553A>G | ENSP00000495706.1:p.Met185Val | |
| ENST00000330287.10:c.415A>G | ENSP00000327895.6:p.Met139Val | |
| ENST00000360256.8:c.6820A>G | ENSP00000353393.4:p.Met2274Val | |
| NM_000132.3:c.6820A>G | NP_000123.1:p.Met2274Val | |
| NM_019863.2:c.415A>G | NP_063916.1:p.Met139Val | |
| XM_011531126.1:c.6715A>G | XP_011529428.1:p.Met2239Val | |
| NM_000132.4:c.6820A>G MANE Select | NP_000123.1:p.Met2274Val | |
| NM_019863.3:c.415A>G | NP_063916.1:p.Met139Val |