Linked Data
dbSNP Id:
rs11189867
gnomAD v2:
10-100682448-T-C
gnomAD v3:
10-98922691-T-C
gnomAD v4:
10-98922691-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98922691T>C , CM000672.2:g.98922691T>C | GRCh38 |
| NC_000010.10:g.100682448T>C , CM000672.1:g.100682448T>C | GRCh37 |
| NC_000010.9:g.100672438T>C | NCBI36 |
| NG_023416.1:g.318185A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370552.8:c.611-178635A>G MANE Select | ENSP00000359583.3:n.611-178635A>G | |
| ENST00000370546.5:c.611-178635A>G | ENSP00000359577.1:n.611-178635A>G | |
| ENST00000370549.5:c.611-200863A>G | ENSP00000359580.1:n.611-200863A>G | |
| ENST00000370552.7:c.611-178635A>G | ENSP00000359583.3:n.611-178635A>G | |
| ENST00000628193.2:c.449-200863A>G | ENSP00000485916.1:n.449-200863A>G | |
| NM_001166244.1:c.611-200863A>G | NP_001159716.1:n.611-200863A>G | |
| NM_001166245.1:c.449-200863A>G | NP_001159717.1:n.449-200863A>G | |
| NM_001166246.1:c.611-178635A>G | NP_001159718.1:n.611-178635A>G | |
| NM_021828.4:c.611-178635A>G | NP_068600.4:n.611-178635A>G | |
| XM_006717937.2:c.95-178635A>G | XP_006718000.1:n.95-178635A>G | |
| XM_011540029.1:c.611-178635A>G | XP_011538331.1:n.611-178635A>G | |
| XM_011540030.1:c.449-178635A>G | XP_011538332.1:n.449-178635A>G | |
| XM_011540031.1:c.95-178635A>G | XP_011538333.1:n.95-178635A>G | |
| XM_011540032.1:c.611-178635A>G | XP_011538334.1:n.611-178635A>G | |
| XM_011540033.1:c.-190-178639A>G | XP_011538335.1:n.-190-178639A>G | |
| XR_945794.1:n.684-178635A>G | ||
| XM_011540031.2:c.95-178635A>G | XP_011538333.1:n.95-178635A>G | |
| XM_017016495.1:c.611-178635A>G | XP_016871984.1:n.611-178635A>G | |
| XM_017016496.2:c.611-178635A>G | XP_016871985.1:n.611-178635A>G | |
| XM_017016497.1:c.95-178635A>G | XP_016871986.1:n.95-178635A>G | |
| XM_017016498.1:c.-190-178639A>G | XP_016871987.1:n.-190-178639A>G | |
| XM_024448119.1:c.95-178635A>G | XP_024303887.1:n.95-178635A>G | |
| XM_024448120.1:c.-190-178639A>G | XP_024303888.1:n.-190-178639A>G | |
| XR_001747170.1:n.684-178635A>G | ||
| NM_021828.5:c.611-178635A>G MANE Select | NP_068600.4:n.611-178635A>G |