Linked Data
dbSNP Id:
rs529336175
gnomAD v2:
7-107342115-A-C
gnomAD v3:
7-107701670-A-C
gnomAD v4:
7-107701670-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701670A>C , CM000669.2:g.107701670A>C | GRCh38 |
| NC_000007.13:g.107342115A>C , CM000669.1:g.107342115A>C | GRCh37 |
| NC_000007.12:g.107129351A>C | NCBI36 |
| NG_008489.1:g.46036A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1804-157A>C MANE Select | ENSP00000494017.1:n.1804-157A>C | |
| ENST00000644846.1:c.515-157A>C | ||
| ENST00000265715.7:c.1804-157A>C | ENSP00000265715.3:n.1804-157A>C | |
| ENST00000480841.5:n.653-157A>C | ||
| ENST00000492030.2:n.91-157A>C | ||
| NM_000441.1:c.1804-157A>C | NP_000432.1:n.1804-157A>C | |
| XM_005250425.1:c.1804-157A>C | XP_005250482.1:n.1804-157A>C | |
| XM_005250425.2:c.1804-157A>C | XP_005250482.1:n.1804-157A>C | |
| XM_017012318.1:c.1726-157A>C | XP_016867807.1:n.1726-157A>C | |
| NM_000441.2:c.1804-157A>C MANE Select | NP_000432.1:n.1804-157A>C |