Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145639136G= , CM000666.2:g.145639136G= | GRCh38 |
| NC_000004.11:g.146560288G= , CM000666.1:g.146560288G= | GRCh37 |
| NC_000004.10:g.146779738G= | NCBI36 |
| NG_007536.1:g.24839G= | |
| NG_007536.2:g.45095G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541599.5:c.-4G= | ENSP00000442284.3:n.-4G= | |
| ENST00000647947.1:c.-4G= | ENSP00000496781.1:n.-4G= | |
| ENST00000648388.1:c.-4G= | ENSP00000497046.1:n.-4G= | |
| ENST00000649156.2:c.-4G= MANE Select | ENSP00000497008.1:n.-4G= | |
| ENST00000649173.1:c.-4G= | ENSP00000497871.1:n.-4G= | |
| ENST00000649704.1:c.-4G= | ENSP00000497680.1:n.-4G= | |
| ENST00000679563.1:c.-4G= | ENSP00000506503.1:n.-4G= | |
| ENST00000679930.1:c.-4G= | ENSP00000506293.1:n.-4G= | |
| ENST00000281317.9:c.-4G= | ENSP00000281317.5:n.-4G= | |
| ENST00000506919.1:n.485G= | ||
| ENST00000511969.4:c.-4G= | ENSP00000427422.1:n.-4G= | |
| ENST00000541599.4:c.-4G= | ENSP00000442284.2:n.-4G= | |
| NM_172250.2:c.-4G= | NP_758454.1:n.-4G= | |
| XM_011531684.1:c.-4G= | XP_011529986.1:n.-4G= | |
| XM_011531685.1:c.-4G= | XP_011529987.1:n.-4G= | |
| NM_172250.3:c.-4G= MANE Select | NP_758454.1:n.-4G= | |
| XM_011531684.3:c.-4G= | XP_011529986.1:n.-4G= | |
| XM_011531685.2:c.-4G= | XP_011529987.1:n.-4G= | |
| XM_011531686.2:c.-787G= | XP_011529988.1:n.-787G= | |
| NM_001375644.1:c.-4G= | NP_001362573.1:n.-4G= |