Linked Data
dbSNP Id:
rs1340118806
gnomAD v2:
17-48271262-T-C
gnomAD v3:
17-50193901-T-C
gnomAD v4:
17-50193901-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50193901T>C , CM000679.2:g.50193901T>C | GRCh38 |
| NC_000017.10:g.48271262T>C , CM000679.1:g.48271262T>C | GRCh37 |
| NC_000017.9:g.45626261T>C | NCBI36 |
| NG_007400.1:g.12739A>G , LRG_1:g.12739A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1767+42A>G MANE Select | ENSP00000225964.6:n.1767+42A>G | |
| ENST00000225964.9:c.1767+42A>G | ENSP00000225964.5:n.1767+42A>G | |
| ENST00000463440.1:n.199A>G | ||
| ENST00000471344.1:n.841A>G | ||
| ENST00000476387.1:n.116+42A>G | ||
| NM_000088.3:c.1767+42A>G , LRG_1t1:c.1767+42A>G | NP_000079.2:n.1767+42A>G | |
| XM_005257058.3:c.1767+42A>G | XP_005257115.2:n.1767+42A>G | |
| XM_005257059.3:c.958-1208A>G | XP_005257116.2:n.958-1208A>G | |
| XM_011524341.1:c.1569+42A>G | XP_011522643.1:n.1569+42A>G | |
| XM_005257058.4:c.1767+42A>G | XP_005257115.2:n.1767+42A>G | |
| XM_005257059.4:c.958-1208A>G | XP_005257116.2:n.958-1208A>G | |
| NM_000088.4:c.1767+42A>G MANE Select | NP_000079.2:n.1767+42A>G |