Linked Data
dbSNP Id:
rs17024869
gnomAD v2:
2-101460043-T-C
gnomAD v3:
2-100843581-T-C
gnomAD v4:
2-100843581-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100843581T>C , CM000664.2:g.100843581T>C | GRCh38 |
| NC_000002.11:g.101460043T>C , CM000664.1:g.101460043T>C | GRCh37 |
| NC_000002.10:g.100826475T>C | NCBI36 |
| NG_023259.1:g.28431T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335681.10:c.-23+23167T>C MANE Select | ENSP00000338283.5:n.-23+23167T>C | |
| ENST00000335681.9:c.-23+23167T>C | ENSP00000338283.5:n.-23+23167T>C | |
| ENST00000427413.5:c.173+22382T>C | ENSP00000397595.2:n.173+22382T>C | |
| NM_002518.3:c.-23+23167T>C | NP_002509.2:n.-23+23167T>C | |
| XM_005263953.1:c.173+22382T>C | XP_005264010.1:n.173+22382T>C | |
| XM_005263954.1:c.173+22382T>C | XP_005264011.1:n.173+22382T>C | |
| XM_005263957.1:c.173+22382T>C | XP_005264014.1:n.173+22382T>C | |
| XM_005263959.1:c.173+22382T>C | XP_005264016.1:n.173+22382T>C | |
| XM_005263960.1:c.173+22382T>C | XP_005264017.1:n.173+22382T>C | |
| XM_011511242.1:c.-23+23167T>C | XP_011509544.1:n.-23+23167T>C | |
| XM_011511243.1:c.173+22382T>C | XP_011509545.1:n.173+22382T>C | |
| XR_922928.1:n.175+22382T>C | ||
| XM_005263953.2:c.173+22382T>C | XP_005264010.1:n.173+22382T>C | |
| XM_005263959.2:c.173+22382T>C | XP_005264016.1:n.173+22382T>C | |
| XM_005263960.2:c.173+22382T>C | XP_005264017.1:n.173+22382T>C | |
| XM_011511242.2:c.-23+23167T>C | XP_011509544.1:n.-23+23167T>C | |
| XM_011511243.2:c.173+22382T>C | XP_011509545.1:n.173+22382T>C | |
| XM_017004214.1:c.173+22382T>C | XP_016859703.1:n.173+22382T>C | |
| XM_017004215.1:c.173+22382T>C | XP_016859704.1:n.173+22382T>C | |
| XM_017004216.1:c.173+22382T>C | XP_016859705.1:n.173+22382T>C | |
| XM_017004217.1:c.173+22382T>C | XP_016859706.1:n.173+22382T>C | |
| NM_002518.4:c.-23+23167T>C MANE Select | NP_002509.2:n.-23+23167T>C |