Linked Data
dbSNP Id:
rs1194474395
gnomAD v2:
2-128183775-T-C
gnomAD v3:
2-127426199-T-C
gnomAD v4:
2-127426199-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426199T>C , CM000664.2:g.127426199T>C | GRCh38 |
| NC_000002.11:g.128183775T>C , CM000664.1:g.128183775T>C | GRCh37 |
| NC_000002.10:g.127900245T>C | NCBI36 |
| NG_016323.1:g.12780T>C , LRG_599:g.12780T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.650T>C MANE Select | ENSP00000234071.4:p.Met217Thr | |
| ENST00000234071.7:c.650T>C | ENSP00000234071.3:p.Met217Thr | |
| ENST00000402125.2:c.121-2158T>C | ||
| ENST00000409048.1:c.752T>C | ENSP00000386679.1:p.Met251Thr | |
| ENST00000464089.1:n.236T>C | ||
| NM_000312.3:c.650T>C , LRG_599t1:c.650T>C | NP_000303.1:p.Met217Thr | |
| XM_005263715.3:c.833T>C | XP_005263772.1:p.Met278Thr | |
| XM_005263716.3:c.815T>C | XP_005263773.1:p.Met272Thr | |
| XM_005263717.3:c.713T>C | XP_005263774.1:p.Met238Thr | |
| XM_005263717.4:c.713T>C | XP_005263774.1:p.Met238Thr | |
| XM_017004505.1:c.893T>C | XP_016859994.1:p.Met298Thr | |
| XM_024453002.1:c.995T>C | XP_024308770.1:p.Met332Thr | |
| XM_024453003.1:c.935T>C | XP_024308771.1:p.Met312Thr | |
| XM_024453004.1:c.833T>C | XP_024308772.1:p.Met278Thr | |
| XM_024453005.1:c.815T>C | XP_024308773.1:p.Met272Thr | |
| XM_024453006.1:c.752T>C | XP_024308774.1:p.Met251Thr | |
| XR_923313.2:n.4386A>G | ||
| NM_000312.4:c.650T>C MANE Select | NP_000303.1:p.Met217Thr | |
| NM_001375602.1:c.833T>C | NP_001362531.1:p.Met278Thr | |
| NM_001375603.1:c.815T>C | NP_001362532.1:p.Met272Thr | |
| NM_001375604.1:c.713T>C | NP_001362533.1:p.Met238Thr | |
| NM_001375605.1:c.752T>C | NP_001362534.1:p.Met251Thr | |
| NM_001375606.1:c.818T>C | NP_001362535.1:p.Met273Thr | |
| NM_001375607.1:c.836T>C | NP_001362536.1:p.Met279Thr | |
| NM_001375608.1:c.593T>C | NP_001362537.1:p.Met198Thr | |
| NM_001375609.1:c.626T>C | NP_001362538.1:p.Met209Thr | |
| NM_001375610.1:c.644T>C | NP_001362539.1:p.Met215Thr | |
| NM_001375611.1:c.650T>C | NP_001362540.1:p.Met217Thr | |
| NM_001375613.1:c.650T>C | NP_001362542.1:p.Met217Thr |