gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070854A>G , CM000664.2:g.38070854A>G | GRCh38 |
| NC_000002.11:g.38297997A>G , CM000664.1:g.38297997A>G | GRCh37 |
| NC_000002.10:g.38151501A>G | NCBI36 |
| NG_008386.2:g.10248T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1500T>C | ENSP00000478839.2:p.Pro500= | |
| ENST00000610745.5:c.1500T>C MANE Select | ENSP00000478561.1:p.Pro500= | |
| ENST00000494864.1:c.387T>C | ENSP00000479876.1:p.Pro129= | |
| ENST00000610745.4:c.1500T>C | ENSP00000478561.1:p.Pro500= | |
| ENST00000614273.1:c.1500T>C | ENSP00000483678.1:p.Pro500= | |
| NM_000104.3:c.1500T>C | NP_000095.2:p.Pro500= | |
| NM_000104.4:c.1500T>C MANE Select | NP_000095.2:p.Pro500= |