dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52771450T>G , CM000672.2:g.52771450T>G | GRCh38 |
| NC_000010.10:g.54531210T>G , CM000672.1:g.54531210T>G | GRCh37 |
| NC_000010.9:g.54201216T>G | NCBI36 |
| NG_008196.1:g.5251A>C , LRG_154:g.5251A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674931.1:c.186A>C MANE Select | ENSP00000502789.1:p.Pro62= | |
| ENST00000675947.1:c.186A>C | ENSP00000502615.1:p.Pro62= | |
| ENST00000373968.3:c.186A>C | ENSP00000363079.3:p.Pro62= | |
| NM_000242.2:c.186A>C , LRG_154t1:c.186A>C | NP_000233.1:p.Pro62= | |
| XM_006717861.2:c.186A>C | XP_006717924.1:p.Pro62= | |
| XM_011539816.1:c.186A>C | XP_011538118.1:p.Pro62= | |
| XM_006717861.4:c.186A>C | XP_006717924.1:p.Pro62= | |
| XM_011539816.3:c.186A>C | XP_011538118.1:p.Pro62= | |
| NM_000242.3:c.186A>C | NP_000233.1:p.Pro62= | |
| NM_001378373.1:c.186A>C MANE Select | NP_001365302.1:p.Pro62= | |
| NM_001378374.1:c.186A>C | NP_001365303.1:p.Pro62= |