Linked Data
dbSNP Id:
rs1182791764
gnomAD v2:
5-138282918-A-G
gnomAD v3:
5-138947229-A-G
gnomAD v4:
5-138947229-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138947229A>G , CM000667.2:g.138947229A>G | GRCh38 |
| NC_000005.9:g.138282918A>G , CM000667.1:g.138282918A>G | GRCh37 |
| NC_000005.8:g.138310817A>G | NCBI36 |
| NG_008112.1:g.256148T>C | |
| NG_008112.2:g.256148T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.1274T>C MANE Select | ENSP00000378294.2:p.Leu425Pro | |
| ENST00000265195.9:c.1274T>C | ENSP00000265195.5:p.Leu425Pro | |
| ENST00000394817.6:c.1274T>C | ENSP00000378294.2:p.Leu425Pro | |
| ENST00000509534.5:c.1295T>C | ENSP00000426858.1:p.Leu432Pro | |
| ENST00000515008.1:n.609T>C | ||
| NM_001037633.1:c.1274T>C | NP_001032722.1:p.Leu425Pro | |
| NM_022464.4:c.1274T>C | NP_071909.1:p.Leu425Pro | |
| XM_011543570.1:c.1304T>C | XP_011541872.1:p.Leu435Pro | |
| XM_011543570.2:c.1304T>C | XP_011541872.1:p.Leu435Pro | |
| XM_024446164.1:c.1274T>C | XP_024301932.1:p.Leu425Pro | |
| NM_022464.5:c.1274T>C MANE Select | NP_071909.1:p.Leu425Pro | |
| NM_001037633.2:c.1274T>C | NP_001032722.1:p.Leu425Pro |