Linked Data
dbSNP Id:
rs754194952
ExAC:
17:48263189 C / G
gnomAD v2:
17-48263189-C-G
gnomAD v3:
17-50185828-C-G
gnomAD v4:
17-50185828-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185828C>G , CM000679.2:g.50185828C>G | GRCh38 |
| NC_000017.10:g.48263189C>G , CM000679.1:g.48263189C>G | GRCh37 |
| NC_000017.9:g.45618188C>G | NCBI36 |
| NG_007400.1:g.20812G>C , LRG_1:g.20812G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4198G>C MANE Select | ENSP00000225964.6:p.Ala1400Pro | |
| ENST00000225964.9:c.4198G>C | ENSP00000225964.5:p.Ala1400Pro | |
| NM_000088.3:c.4198G>C , LRG_1t1:c.4198G>C | NP_000079.2:p.Ala1400Pro | |
| XM_005257058.3:c.3928G>C | XP_005257115.2:p.Ala1310Pro | |
| XM_005257059.3:c.3280G>C | XP_005257116.2:p.Ala1094Pro | |
| XM_011524341.1:c.4000G>C | XP_011522643.1:p.Ala1334Pro | |
| XM_005257058.4:c.3928G>C | XP_005257115.2:p.Ala1310Pro | |
| XM_005257059.4:c.3280G>C | XP_005257116.2:p.Ala1094Pro | |
| NM_000088.4:c.4198G>C MANE Select | NP_000079.2:p.Ala1400Pro |