Linked Data
dbSNP Id:
rs1775715
gnomAD v2:
10-32309005-A-G
gnomAD v3:
10-32020077-A-G
gnomAD v4:
10-32020077-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.32020077A>G , CM000672.2:g.32020077A>G | GRCh38 |
| NC_000010.10:g.32309005A>G , CM000672.1:g.32309005A>G | GRCh37 |
| NC_000010.9:g.32349011A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302418.5:c.2205-118T>C MANE Select | ENSP00000307078.4:n.2205-118T>C | |
| ENST00000302418.4:c.2205-118T>C | ENSP00000307078.4:n.2205-118T>C | |
| ENST00000493889.1:n.74-118T>C | ||
| NM_004521.2:c.2205-118T>C | NP_004512.1:n.2205-118T>C | |
| XM_017016224.2:c.1923-118T>C | XP_016871713.1:n.1923-118T>C | |
| NM_004521.3:c.2205-118T>C MANE Select | NP_004512.1:n.2205-118T>C |