Linked Data
dbSNP Id:
rs2059397
gnomAD v2:
1-217718132-C-G
gnomAD v3:
1-217544790-C-G
gnomAD v4:
1-217544790-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.217544790C>G , CM000663.2:g.217544790C>G | GRCh38 |
| NC_000001.10:g.217718132C>G , CM000663.1:g.217718132C>G | GRCh37 |
| NC_000001.9:g.215784755C>G | NCBI36 |
| NG_053034.1:g.91313G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366935.8:c.1099-29901G>C MANE Select | ENSP00000355902.3:n.1099-29901G>C | |
| ENST00000366935.7:c.1099-29901G>C | ENSP00000355902.3:n.1099-29901G>C | |
| ENST00000470014.6:n.81-29901G>C | ||
| ENST00000485274.1:n.60-29901G>C | ||
| NM_018040.3:c.1099-29901G>C | NP_060510.1:n.1099-29901G>C | |
| XM_011509689.1:c.1099-29901G>C | XP_011507991.1:n.1099-29901G>C | |
| XM_011509690.1:c.1099-29901G>C | XP_011507992.1:n.1099-29901G>C | |
| XM_011509691.1:c.916-29901G>C | XP_011507993.1:n.916-29901G>C | |
| XM_011509692.1:c.1099-29901G>C | XP_011507994.1:n.1099-29901G>C | |
| XM_011509693.1:c.1099-29901G>C | XP_011507995.1:n.1099-29901G>C | |
| XR_247030.2:n.1212-29901G>C | ||
| XR_921856.1:n.1212-29901G>C | ||
| XR_921857.1:n.1212-29901G>C | ||
| XR_921858.1:n.1212-29901G>C | ||
| XR_921859.1:n.1212-29901G>C | ||
| NM_018040.4:c.1099-29901G>C | NP_060510.1:n.1099-29901G>C | |
| XM_011509689.3:c.1099-29901G>C | XP_011507991.1:n.1099-29901G>C | |
| XM_011509690.3:c.1099-29901G>C | XP_011507992.1:n.1099-29901G>C | |
| XM_011509691.3:c.916-29901G>C | XP_011507993.1:n.916-29901G>C | |
| XM_011509693.3:c.1099-29901G>C | XP_011507995.1:n.1099-29901G>C | |
| XM_017001592.2:c.1099-29901G>C | XP_016857081.1:n.1099-29901G>C | |
| XM_017001593.2:c.1099-29901G>C | XP_016857082.1:n.1099-29901G>C | |
| XR_247030.4:n.1212-29901G>C | ||
| XR_921856.3:n.1212-29901G>C | ||
| XR_921858.3:n.1212-29901G>C | ||
| NM_018040.5:c.1099-29901G>C MANE Select | NP_060510.1:n.1099-29901G>C |