gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171824168A>G , CM000664.2:g.171824168A>G | GRCh38 |
| NC_000002.11:g.172680678A>G , CM000664.1:g.172680678A>G | GRCh37 |
| NC_000002.10:g.172388924A>G | NCBI36 |
| NG_011781.1:g.75136T>C | |
| NG_011781.2:g.75136T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422440.7:c.930+2630T>C MANE Select | ENSP00000388658.2:n.930+2630T>C | |
| ENST00000263812.8:c.*550+2630T>C | ENSP00000263812.4:n.*550+2630T>C | |
| ENST00000422440.6:c.930+2630T>C | ENSP00000388658.2:n.930+2630T>C | |
| ENST00000485880.1:n.458+2630T>C | ||
| NM_003705.4:c.930+2630T>C | NP_003696.2:n.930+2630T>C | |
| NR_047549.1:n.906+2630T>C | ||
| XM_005246923.3:c.879+2630T>C | XP_005246980.1:n.879+2630T>C | |
| XM_011512069.1:c.930+2630T>C | XP_011510371.1:n.930+2630T>C | |
| XM_011512070.1:c.657+2630T>C | XP_011510372.1:n.657+2630T>C | |
| XM_011512070.3:c.657+2630T>C | XP_011510372.1:n.657+2630T>C | |
| NM_003705.5:c.930+2630T>C MANE Select | NP_003696.2:n.930+2630T>C | |
| NR_047549.2:n.844+2630T>C |