Linked Data
dbSNP Id:
rs1970764
gnomAD v2:
19-45890873-T-C
gnomAD v3:
19-45387615-T-C
gnomAD v4:
19-45387615-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45387615T>C , CM000681.2:g.45387615T>C | GRCh38 |
| NC_000019.9:g.45890873T>C , CM000681.1:g.45890873T>C | GRCh37 |
| NC_000019.8:g.50582713T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360957.10:c.1816-1435A>G MANE Select | ENSP00000354218.4:n.1816-1435A>G | |
| ENST00000360957.9:c.1816-1435A>G | ENSP00000354218.4:n.1816-1435A>G | |
| ENST00000418234.6:c.1816-1435A>G | ENSP00000403902.1:n.1816-1435A>G | |
| ENST00000587270.5:n.1289-1435A>G | ||
| ENST00000612351.1:c.376-1435A>G | ENSP00000478646.1:n.376-1435A>G | |
| NM_001142502.1:c.1816-1435A>G | NP_001135974.1:n.1816-1435A>G | |
| NM_006663.3:c.1816-1435A>G | NP_006654.2:n.1816-1435A>G | |
| XM_017026177.1:c.1816-1435A>G | XP_016881666.1:n.1816-1435A>G | |
| XM_017026178.1:c.1816-1435A>G | XP_016881667.1:n.1816-1435A>G | |
| XM_017026179.1:c.1816-1378A>G | XP_016881668.1:n.1816-1378A>G | |
| NM_006663.4:c.1816-1435A>G MANE Select | NP_006654.2:n.1816-1435A>G | |
| NM_001142502.2:c.1816-1435A>G | NP_001135974.1:n.1816-1435A>G |