dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6838864T>C , CM000674.2:g.6838864T>C | GRCh38 |
| NC_000012.11:g.6948028T>C , CM000674.1:g.6948028T>C | GRCh37 |
| NC_000012.10:g.6818289T>C | NCBI36 |
| NG_009100.1:g.3654T>C | |
| NG_033740.1:g.15492T>C | |
| NG_009100.2:g.3654T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290510.10:c.1906-136T>C MANE Select | ENSP00000478600.1:n.1906-136T>C | |
| ENST00000290510.9:c.1906-136T>C | ENSP00000478600.1:n.1906-136T>C | |
| ENST00000536140.5:n.2536-136T>C | ||
| ENST00000612048.4:n.1439-136T>C | ||
| NM_014262.4:c.1906-136T>C | NP_055077.2:n.1906-136T>C | |
| NM_014262.5:c.1906-136T>C MANE Select | NP_055077.2:n.1906-136T>C |