Linked Data
dbSNP Id:
rs1006502
gnomAD v2:
2-74486357-G-A
gnomAD v3:
2-74259230-G-A
gnomAD v4:
2-74259230-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74259230G>A , CM000664.2:g.74259230G>A | GRCh38 |
| NC_000002.11:g.74486357G>A , CM000664.1:g.74486357G>A | GRCh37 |
| NC_000002.10:g.74339865G>A | NCBI36 |
| NG_032663.1:g.89178C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394019.7:c.867+358C>T MANE Select | ENSP00000377587.2:n.867+358C>T | |
| ENST00000425249.6:c.867+358C>T | ENSP00000405678.2:n.867+358C>T | |
| ENST00000346834.8:c.867+358C>T | ENSP00000251768.7:n.867+358C>T | |
| ENST00000358683.8:c.675+358C>T | ENSP00000351513.4:n.675+358C>T | |
| ENST00000377632.5:c.867+358C>T | ENSP00000366859.1:n.867+358C>T | |
| ENST00000377634.8:c.867+358C>T | ENSP00000366861.4:n.867+358C>T | |
| ENST00000394019.6:c.867+358C>T | ENSP00000377587.2:n.867+358C>T | |
| ENST00000423644.5:c.867+358C>T | ENSP00000395804.2:n.867+358C>T | |
| ENST00000425249.5:c.867+358C>T | ENSP00000405678.1:n.867+358C>T | |
| ENST00000451608.2:c.2031+358C>T | ENSP00000416453.2:n.2031+358C>T | |
| ENST00000483195.5:n.1672+358C>T | ||
| NM_021196.3:c.867+358C>T | NP_067019.3:n.867+358C>T | |
| NM_133478.2:c.867+358C>T | NP_597812.1:n.867+358C>T | |
| NM_133478.3:c.867+358C>T MANE Select | NP_597812.1:n.867+358C>T | |
| NM_001386136.1:c.519+358C>T | NP_001373065.1:n.519+358C>T |