Linked Data
dbSNP Id:
rs1049817
ExAC:
2:27550967 A / G
gnomAD v2:
2-27550967-A-G
gnomAD v3:
2-27328100-A-G
gnomAD v4:
2-27328100-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27328100A>G , CM000664.2:g.27328100A>G | GRCh38 |
| NC_000002.11:g.27550967A>G , CM000664.1:g.27550967A>G | GRCh37 |
| NC_000002.10:g.27404471A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264720.8:c.2346T>C MANE Select | ENSP00000264720.3:p.Pro782= | |
| ENST00000264720.7:c.2346T>C | ENSP00000264720.3:p.Pro782= | |
| ENST00000359541.6:c.2346T>C | ENSP00000352536.2:p.Pro782= | |
| ENST00000415683.2:c.613T>C | ||
| ENST00000454704.5:c.872T>C | ||
| ENST00000457098.5:c.226T>C | ||
| ENST00000495298.1:n.391T>C | ||
| NM_001035521.2:c.2346T>C | NP_001030598.1:p.Pro782= | |
| NM_001521.3:c.2346T>C | NP_001512.1:p.Pro782= | |
| XM_005264272.3:c.2463T>C | XP_005264329.1:p.Pro821= | |
| XM_005264273.2:c.2379T>C | XP_005264330.1:p.Pro793= | |
| XM_011532801.1:c.2691T>C | XP_011531103.1:p.Pro897= | |
| XM_011532802.1:c.2346T>C | XP_011531104.1:p.Pro782= | |
| NM_001318909.1:c.2379T>C | NP_001305838.1:p.Pro793= | |
| XM_005264272.5:c.2463T>C | XP_005264329.1:p.Pro821= | |
| NM_001035521.3:c.2346T>C MANE Select | NP_001030598.1:p.Pro782= | |
| NM_001318909.2:c.2379T>C | NP_001305838.1:p.Pro793= | |
| NM_001388380.1:c.2463T>C | NP_001375309.1:p.Pro821= | |
| NM_001521.4:c.2346T>C | NP_001512.1:p.Pro782= | |
| NM_001318909.4:c.2346T>C | NP_001305838.2:p.Pro782= | |
| NM_001388380.3:c.2346T>C | NP_001375309.2:p.Pro782= | |
| NM_001394503.1:c.2346T>C | NP_001381432.1:p.Pro782= | |
| NM_001394504.1:c.2346T>C | NP_001381433.1:p.Pro782= | |
| NM_001394505.1:c.2346T>C | NP_001381434.1:p.Pro782= | |
| NM_001394506.1:c.2346T>C | NP_001381435.1:p.Pro782= | |
| NM_001394507.1:c.2346T>C | NP_001381436.1:p.Pro782= | |
| NM_001394508.1:c.2346T>C | NP_001381437.1:p.Pro782= | |
| NM_001394509.1:c.2346T>C | NP_001381438.1:p.Pro782= | |
| NM_001394510.1:c.2346T>C | NP_001381439.1:p.Pro782= | |
| NM_001394511.1:c.2346T>C | NP_001381440.1:p.Pro782= | |
| NM_001394512.1:c.2334T>C | NP_001381441.1:p.Pro778= | |
| NM_001394514.1:c.2268T>C | NP_001381443.1:p.Pro756= | |
| NM_001394515.1:c.2190T>C | NP_001381444.1:p.Pro730= | |
| NM_001394516.1:c.2118T>C | NP_001381445.1:p.Pro706= |