Linked Data
dbSNP Id:
rs10183486
gnomAD v2:
2-171990971-C-T
gnomAD v3:
2-171134461-C-T
gnomAD v4:
2-171134461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171134461C>T , CM000664.2:g.171134461C>T | GRCh38 |
| NC_000002.11:g.171990971C>T , CM000664.1:g.171990971C>T | GRCh37 |
| NC_000002.10:g.171699217C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000431350.7:c.140-16604G>A MANE Select | ENSP00000411099.2:n.140-16604G>A | |
| ENST00000359766.7:c.140-16604G>A | ENSP00000352810.3:n.140-16604G>A | |
| ENST00000360843.7:c.140-16604G>A | ENSP00000354089.3:n.140-16604G>A | |
| ENST00000409443.6:c.140-16604G>A | ENSP00000387313.2:n.140-16604G>A | |
| ENST00000413010.5:n.276-16604G>A | ||
| ENST00000431350.6:c.140-16604G>A | ENSP00000411099.2:n.140-16604G>A | |
| ENST00000466220.1:n.241-16604G>A | ||
| ENST00000470340.1:n.331-16604G>A | ||
| ENST00000521943.5:c.-5-16604G>A | ENSP00000428113.1:n.-5-16604G>A | |
| NM_001136554.1:c.-5-16604G>A | NP_001130026.1:n.-5-16604G>A | |
| NM_012290.4:c.140-16604G>A | NP_036422.3:n.140-16604G>A | |
| XM_011512238.1:c.140-16604G>A | XP_011510540.1:n.140-16604G>A | |
| XR_923070.1:n.652-16604G>A | ||
| XM_011512238.3:c.140-16604G>A | XP_011510540.1:n.140-16604G>A | |
| XM_017005422.2:c.-394+25829G>A | XP_016860911.1:n.-394+25829G>A | |
| XR_001739084.2:n.527-16604G>A | ||
| XR_001739085.2:n.527-16604G>A | ||
| NM_012290.5:c.140-16604G>A MANE Select | NP_036422.3:n.140-16604G>A | |
| NM_001136554.2:c.-5-16604G>A | NP_001130026.1:n.-5-16604G>A |