Linked Data
dbSNP Id:
rs2032632
ExAC:
Y:21868672 T / C
gnomAD v2:
Y-21868672-T-C
gnomAD v3:
Y-19706786-T-C
gnomAD v4:
Y-19706786-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19706786T>C , CM000686.2:g.19706786T>C | GRCh38 |
| NC_000024.9:g.21868672T>C , CM000686.1:g.21868672T>C | GRCh37 |
| NC_000024.8:g.20328060T>C | NCBI36 |
| NG_032920.1:g.43154A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317961.9:c.4069+8A>G MANE Select | ENSP00000322408.4:n.4069+8A>G | |
| ENST00000317961.8:c.4069+8A>G | ENSP00000322408.4:n.4069+8A>G | |
| ENST00000382806.6:c.3898+8A>G | ENSP00000372256.2:n.3898+8A>G | |
| ENST00000440077.5:c.3946+8A>G | ENSP00000398543.1:n.3946+8A>G | |
| ENST00000469599.6:n.2675A>G | ||
| ENST00000492117.1:n.3969A>G | ||
| ENST00000541639.5:c.4162+8A>G | ENSP00000444293.1:n.4162+8A>G | |
| NM_001146705.1:c.4162+8A>G | NP_001140177.1:n.4162+8A>G | |
| NM_001146706.1:c.3898+8A>G | NP_001140178.1:n.3898+8A>G | |
| NM_004653.4:c.4069+8A>G | NP_004644.2:n.4069+8A>G | |
| XM_005262560.1:c.3934+8A>G | XP_005262617.1:n.3934+8A>G | |
| XM_005262561.1:c.3838+8A>G | XP_005262618.1:n.3838+8A>G | |
| XM_011531468.1:c.3991+8A>G | XP_011529770.1:n.3991+8A>G | |
| XR_244571.2:n.4357+8A>G | ||
| XR_430568.2:n.4699A>G | ||
| XM_005262560.3:c.3934+8A>G | XP_005262617.1:n.3934+8A>G | |
| XM_005262561.3:c.3838+8A>G | XP_005262618.1:n.3838+8A>G | |
| XM_011531468.3:c.3991+8A>G | XP_011529770.1:n.3991+8A>G | |
| XM_024452495.1:c.2059+8A>G | XP_024308263.1:n.2059+8A>G | |
| XM_024452496.1:c.1825+8A>G | XP_024308264.1:n.1825+8A>G | |
| XR_001756009.2:n.4807+8A>G | ||
| XR_001756010.2:n.4807+8A>G | ||
| XR_001756011.2:n.4672+8A>G | ||
| XR_001756012.2:n.4820+8A>G | ||
| XR_001756013.2:n.4138+8A>G | ||
| XR_002958832.1:n.4247A>G | ||
| XR_002958834.1:n.4463+8A>G | ||
| XR_002958835.1:n.4346+8A>G | ||
| XR_002958836.1:n.5029+8A>G | ||
| XR_002958837.1:n.4836+8A>G | ||
| XR_244571.4:n.4356+8A>G | ||
| XR_430568.4:n.4698A>G | ||
| NM_001146706.2:c.3898+8A>G | NP_001140178.1:n.3898+8A>G | |
| NM_004653.5:c.4069+8A>G MANE Select | NP_004644.2:n.4069+8A>G | |
| NM_001146705.2:c.4162+8A>G | NP_001140177.1:n.4162+8A>G |