gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010061 (SAS)
Exomes Max Group AF
0.00009791 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129192787G>C , CM000668.2:g.129192787G>C | GRCh38 |
| NC_000006.11:g.129513932G>C , CM000668.1:g.129513932G>C | GRCh37 |
| NC_000006.10:g.129555625G>C | NCBI36 |
| NG_008678.1:g.314647G>C , LRG_409:g.314647G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.1716G>C | ENSP00000481744.2:p.Ala572= | |
| ENST00000618192.5:c.1716G>C | ENSP00000480802.2:p.Ala572= | |
| ENST00000686599.1:n.1821G>C | ||
| ENST00000690881.1:n.1179G>C | ||
| ENST00000421865.3:c.1716G>C MANE Select | ENSP00000400365.2:p.Ala572= | |
| ENST00000421865.2:c.1716G>C | ENSP00000400365.2:p.Ala572= | |
| ENST00000617695.4:c.1716G>C | ENSP00000481744.1:p.Ala572= | |
| ENST00000618192.4:c.1716G>C | ENSP00000480802.1:p.Ala572= | |
| NM_000426.3:c.1716G>C , LRG_409t1:c.1716G>C | NP_000417.2:p.Ala572= | |
| NM_001079823.1:c.1716G>C | NP_001073291.1:p.Ala572= | |
| XM_005266981.2:c.1716G>C | XP_005267038.1:p.Ala572= | |
| XM_005266982.2:c.1716G>C | XP_005267039.1:p.Ala572= | |
| XM_011535820.1:c.1716G>C | XP_011534122.1:p.Ala572= | |
| XM_005266981.3:c.1716G>C | XP_005267038.1:p.Ala572= | |
| XM_005266982.3:c.1716G>C | XP_005267039.1:p.Ala572= | |
| XM_011535820.2:c.1716G>C | XP_011534122.1:p.Ala572= | |
| XM_017010851.2:c.1722G>C | XP_016866340.1:p.Ala574= | |
| XM_017010853.1:c.1716G>C | XP_016866342.1:p.Ala572= | |
| NM_000426.4:c.1716G>C MANE Select | NP_000417.3:p.Ala572= | |
| NM_001079823.2:c.1716G>C | NP_001073291.2:p.Ala572= |