Linked Data
ClinVar Variation Id:
826106
ClinVar RCV Id:
RCV001024774
dbSNP Id:
rs758547697
ExAC:
11:94209515 A / G
gnomAD v2:
11-94209515-A-G
gnomAD v4:
11-94476349-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94476349A>G , CM000673.2:g.94476349A>G | GRCh38 |
| NC_000011.9:g.94209515A>G , CM000673.1:g.94209515A>G | GRCh37 |
| NC_000011.8:g.93849163A>G | NCBI36 |
| NG_007261.1:g.22526T>C , LRG_85:g.22526T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.599T>C MANE Select | ENSP00000325863.4:p.Met200Thr | |
| ENST00000323929.7:c.599T>C | ENSP00000325863.3:p.Met200Thr | |
| ENST00000323977.7:c.599T>C | ENSP00000326094.3:p.Met200Thr | |
| ENST00000393241.8:c.599T>C | ENSP00000376933.4:p.Met200Thr | |
| ENST00000407439.7:c.608T>C | ENSP00000385614.3:p.Met203Thr | |
| ENST00000540013.5:c.599T>C | ENSP00000440986.1:p.Met200Thr | |
| NM_005590.3:c.599T>C | NP_005581.2:p.Met200Thr | |
| NM_005591.3:c.599T>C , LRG_85t1:c.599T>C | NP_005582.1:p.Met200Thr | |
| XM_005274008.2:c.131T>C | XP_005274065.1:p.Met44Thr | |
| XM_006718842.2:c.599T>C | XP_006718905.1:p.Met200Thr | |
| XM_011542837.1:c.599T>C | XP_011541139.1:p.Met200Thr | |
| XR_947828.1:n.895T>C | ||
| NM_001330347.1:c.599T>C | NP_001317276.1:p.Met200Thr | |
| XM_005274008.3:c.131T>C | XP_005274065.1:p.Met44Thr | |
| XM_006718842.3:c.599T>C | XP_006718905.1:p.Met200Thr | |
| XM_011542837.2:c.599T>C | XP_011541139.1:p.Met200Thr | |
| XM_017017772.1:c.599T>C | XP_016873261.1:p.Met200Thr | |
| XR_947828.2:n.895T>C | ||
| NM_001330347.2:c.599T>C | NP_001317276.1:p.Met200Thr | |
| NM_005590.4:c.599T>C | NP_005581.2:p.Met200Thr | |
| NM_005591.4:c.599T>C MANE Select | NP_005582.1:p.Met200Thr |