gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77653795 (NFE)
Genomes Max Group AF
0.77653795 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203937855T>C , CM000664.2:g.203937855T>C | GRCh38 |
| NC_000002.11:g.204802578T>C , CM000664.1:g.204802578T>C | GRCh37 |
| NC_000002.10:g.204510823T>C | NCBI36 |
| NG_011586.1:g.6076T>C , LRG_65:g.6076T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316386.11:c.58+983T>C MANE Select | ENSP00000319476.6:n.58+983T>C | |
| ENST00000316386.10:c.58+983T>C | ENSP00000319476.6:n.58+983T>C | |
| ENST00000435193.1:c.58+983T>C | ENSP00000415951.1:n.58+983T>C | |
| NM_012092.3:c.58+983T>C , LRG_65t1:c.58+983T>C | NP_036224.1:n.58+983T>C | |
| XM_011511028.1:c.58+983T>C | XP_011509330.1:n.58+983T>C | |
| XM_011511029.1:c.-2580T>C | XP_011509331.1:n.-2580T>C | |
| XM_011511030.1:c.-360+983T>C | XP_011509332.1:n.-360+983T>C | |
| XM_011511031.1:c.-264+983T>C | XP_011509333.1:n.-264+983T>C | |
| XR_427213.2:n.295-467A>G | ||
| XR_001739861.1:n.309-467A>G | ||
| XR_427213.3:n.309-467A>G | ||
| NM_012092.4:c.58+983T>C MANE Select | NP_036224.1:n.58+983T>C |