Linked Data
dbSNP Id:
rs576432684
gnomAD v2:
1-17331024-G-C
gnomAD v3:
1-17004529-G-C
gnomAD v4:
1-17004529-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17004529G>C , CM000663.2:g.17004529G>C | GRCh38 |
| NC_000001.10:g.17331024G>C , CM000663.1:g.17331024G>C | GRCh37 |
| NC_000001.9:g.17203611G>C | NCBI36 |
| NG_009054.1:g.12400C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.478-118C>G MANE Select | ENSP00000327214.8:n.478-118C>G | |
| ENST00000326735.12:c.478-118C>G | ENSP00000327214.8:n.478-118C>G | |
| ENST00000341676.9:c.463-118C>G | ENSP00000341115.5:n.463-118C>G | |
| ENST00000452699.5:c.463-118C>G | ENSP00000413307.1:n.463-118C>G | |
| ENST00000508222.5:c.197-118C>G | ||
| ENST00000509619.1:c.440-121C>G | ||
| ENST00000510069.5:c.404-121C>G | ||
| ENST00000511957.5:c.190-118C>G | ENSP00000427241.1:n.190-118C>G | |
| ENST00000617114.4:c.-384-118C>G | ENSP00000478781.1:n.-384-118C>G | |
| NM_001141973.2:c.463-118C>G | NP_001135445.1:n.463-118C>G | |
| NM_001141974.2:c.463-118C>G | NP_001135446.1:n.463-118C>G | |
| NM_022089.3:c.478-118C>G | NP_071372.1:n.478-118C>G | |
| XM_005245809.1:c.478-118C>G | XP_005245866.1:n.478-118C>G | |
| XM_005245810.1:c.478-121C>G | XP_005245867.1:n.478-121C>G | |
| XM_005245811.1:c.463-118C>G | XP_005245868.1:n.463-118C>G | |
| XM_005245812.1:c.478-118C>G | XP_005245869.1:n.478-118C>G | |
| XM_005245813.1:c.478-118C>G | XP_005245870.1:n.478-118C>G | |
| XM_005245815.1:c.478-118C>G | XP_005245872.1:n.478-118C>G | |
| XM_006710512.1:c.463-121C>G | XP_006710575.1:n.463-121C>G | |
| XM_006710513.1:c.463-118C>G | XP_006710576.1:n.463-118C>G | |
| XM_011541128.1:c.478-118C>G | XP_011539430.1:n.478-118C>G | |
| XM_011541129.1:c.478-118C>G | XP_011539431.1:n.478-118C>G | |
| XM_017000844.1:c.478-118C>G | XP_016856333.1:n.478-118C>G | |
| XM_017000845.1:c.463-121C>G | XP_016856334.1:n.463-121C>G | |
| XM_017000846.1:c.463-118C>G | XP_016856335.1:n.463-118C>G | |
| XM_017000847.1:c.478-121C>G | XP_016856336.1:n.478-121C>G | |
| XM_017000848.1:c.478-118C>G | XP_016856337.1:n.478-118C>G | |
| XM_017000849.1:c.463-118C>G | XP_016856338.1:n.463-118C>G | |
| XM_017000850.1:c.478-118C>G | XP_016856339.1:n.478-118C>G | |
| NM_022089.4:c.478-118C>G MANE Select | NP_071372.1:n.478-118C>G | |
| NM_001141973.3:c.463-118C>G | NP_001135445.1:n.463-118C>G | |
| NM_001141974.3:c.463-118C>G | NP_001135446.1:n.463-118C>G |