gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98537592 (NFE)
Genomes Max Group AF
0.98537592 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60841619T>G , CM000676.2:g.60841619T>G | GRCh38 |
| NC_000014.8:g.61308337T>G , CM000676.1:g.61308337T>G | GRCh37 |
| NC_000014.7:g.60378090T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261245.9:c.687+22772T>G MANE Select | ENSP00000261245.4:n.687+22772T>G | |
| ENST00000261245.8:c.687+22772T>G | ENSP00000261245.4:n.687+22772T>G | |
| ENST00000539616.6:c.561+29492T>G | ENSP00000446437.2:n.561+29492T>G | |
| ENST00000554002.5:c.372+22772T>G | ENSP00000451379.1:n.372+22772T>G | |
| ENST00000554641.1:n.268+22772T>G | ||
| ENST00000557134.1:c.267+22772T>G | ENSP00000451017.1:n.267+22772T>G | |
| NM_001177963.1:c.561+29492T>G | NP_001171434.1:n.561+29492T>G | |
| NM_002431.3:c.687+22772T>G | NP_002422.1:n.687+22772T>G | |
| XM_005267687.1:c.687+22772T>G | XP_005267744.1:n.687+22772T>G | |
| XM_005267688.1:c.687+22772T>G | XP_005267745.1:n.687+22772T>G | |
| XM_011536795.1:c.324+22772T>G | XP_011535097.1:n.324+22772T>G | |
| XM_005267687.3:c.687+22772T>G | XP_005267744.1:n.687+22772T>G | |
| XM_005267688.3:c.687+22772T>G | XP_005267745.1:n.687+22772T>G | |
| XM_017021332.2:c.642+22772T>G | XP_016876821.1:n.642+22772T>G | |
| XM_017021333.2:c.324+22772T>G | XP_016876822.1:n.324+22772T>G | |
| XM_017021334.2:c.324+22772T>G | XP_016876823.1:n.324+22772T>G | |
| XM_024449599.1:c.324+22772T>G | XP_024305367.1:n.324+22772T>G | |
| NM_002431.4:c.687+22772T>G MANE Select | NP_002422.1:n.687+22772T>G | |
| NM_001177963.2:c.561+29492T>G | NP_001171434.1:n.561+29492T>G |