Linked Data
dbSNP Id:
rs12059277
gnomAD v2:
1-160919628-G-C
gnomAD v3:
1-160949838-G-C
gnomAD v4:
1-160949838-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160949838G>C , CM000663.2:g.160949838G>C | GRCh38 |
| NC_000001.10:g.160919628G>C , CM000663.1:g.160919628G>C | GRCh37 |
| NC_000001.9:g.159186252G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368029.4:c.721+208C>G MANE Select | ENSP00000357008.3:n.721+208C>G | |
| ENST00000368029.3:c.721+208C>G | ENSP00000357008.3:n.721+208C>G | |
| ENST00000494442.1:n.581+208C>G | ||
| NM_080878.2:c.721+208C>G | NP_543154.1:n.721+208C>G | |
| NR_110695.1:n.2052G>C | ||
| XM_011509210.1:c.721+208C>G | XP_011507512.1:n.721+208C>G | |
| XM_011509211.1:c.718+208C>G | XP_011507513.1:n.718+208C>G | |
| XM_024453321.1:c.718+208C>G | XP_024309089.1:n.718+208C>G | |
| NM_080878.3:c.721+208C>G MANE Select | NP_543154.1:n.721+208C>G |