dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132969648G>C , CM000671.2:g.132969648G>C | GRCh38 |
| NC_000009.11:g.135845035G>C , CM000671.1:g.135845035G>C | GRCh37 |
| NC_000009.10:g.134834856G>C | NCBI36 |
| NG_034227.1:g.29104G>C , LRG_879:g.29104G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339463.7:c.-700-3077G>C | ENSP00000344782.3:n.-700-3077G>C | |
| NM_004188.5:c.-700-3077G>C , LRG_879t1:c.-700-3077G>C | NP_004179.3:n.-700-3077G>C | |
| NM_004188.6:c.-700-3077G>C | NP_004179.3:n.-700-3077G>C | |
| NM_004188.8:c.-700-3077G>C | NP_004179.3:n.-700-3077G>C |