Linked Data
dbSNP Id:
rs1225804894
gnomAD v2:
9-6556370-C-G
gnomAD v3:
9-6556370-C-G
gnomAD v4:
9-6556370-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556370C>G , CM000671.2:g.6556370C>G | GRCh38 |
| NC_000009.11:g.6556370C>G , CM000671.1:g.6556370C>G | GRCh37 |
| NC_000009.10:g.6546370C>G | NCBI36 |
| NG_016397.1:g.94323G>C , LRG_643:g.94323G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2053-68G>C MANE Select | ENSP00000370737.4:n.2053-68G>C | |
| ENST00000638233.1:n.488-68G>C | ||
| ENST00000638661.1:c.253-68G>C | ENSP00000491369.1:n.253-68G>C | |
| ENST00000638694.1:n.240-68G>C | ||
| ENST00000639318.1:c.253-68G>C | ENSP00000491932.1:n.253-68G>C | |
| ENST00000639364.1:n.1753-68G>C | ||
| ENST00000639443.1:n.1621-68G>C | ||
| ENST00000639954.1:n.1761-68G>C | ||
| ENST00000640505.1:n.292-68G>C | ||
| ENST00000321612.6:c.2053-68G>C | ENSP00000370737.3:n.2053-68G>C | |
| NM_000170.2:c.2053-68G>C , LRG_643t1:c.2053-68G>C | NP_000161.2:n.2053-68G>C | |
| NM_000170.3:c.2053-68G>C MANE Select | NP_000161.2:n.2053-68G>C |