Linked Data
dbSNP Id:
rs1199337
gnomAD v2:
3-138088064-G-C
gnomAD v3:
3-138369222-G-C
gnomAD v4:
3-138369222-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138369222G>C , CM000665.2:g.138369222G>C | GRCh38 |
| NC_000003.11:g.138088064G>C , CM000665.1:g.138088064G>C | GRCh37 |
| NC_000003.10:g.139570754G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423968.7:c.-18-3644G>C MANE Select | ENSP00000389682.2:n.-18-3644G>C | |
| ENST00000289104.8:c.-18-3644G>C | ENSP00000289104.4:n.-18-3644G>C | |
| ENST00000423968.6:c.-18-3644G>C | ENSP00000389682.2:n.-18-3644G>C | |
| ENST00000464896.5:c.-36+20190G>C | ENSP00000419582.1:n.-36+20190G>C | |
| ENST00000474559.1:c.-18-3644G>C | ENSP00000418356.1:n.-18-3644G>C | |
| ENST00000475711.5:c.-18-3644G>C | ENSP00000417092.1:n.-18-3644G>C | |
| ENST00000494949.5:c.-36+20455G>C | ENSP00000417685.1:n.-36+20455G>C | |
| ENST00000614350.4:c.-36+20897G>C | ENSP00000484586.1:n.-36+20897G>C | |
| ENST00000621127.4:c.-36+20455G>C | ENSP00000481637.1:n.-36+20455G>C | |
| NM_001085049.2:c.-18-3644G>C | NP_001078518.1:n.-18-3644G>C | |
| NM_001252090.1:c.-18-3644G>C | NP_001239019.1:n.-18-3644G>C | |
| NM_001252091.1:c.-36+20897G>C | NP_001239020.1:n.-36+20897G>C | |
| NM_001252092.1:c.-36+20190G>C | NP_001239021.1:n.-36+20190G>C | |
| NM_001252093.1:c.-36+20455G>C | NP_001239022.1:n.-36+20455G>C | |
| NM_012219.4:c.-18-3644G>C | NP_036351.3:n.-18-3644G>C | |
| XM_005247228.1:c.-18-3644G>C | XP_005247285.1:n.-18-3644G>C | |
| XM_005247229.2:c.-18-3644G>C | XP_005247286.1:n.-18-3644G>C | |
| XM_017005887.2:c.-18-3644G>C | XP_016861376.1:n.-18-3644G>C | |
| XM_024453396.1:c.-18-3644G>C | XP_024309164.1:n.-18-3644G>C | |
| XM_024453397.1:c.-18-3644G>C | XP_024309165.1:n.-18-3644G>C | |
| XM_024453398.1:c.-18-3644G>C | XP_024309166.1:n.-18-3644G>C | |
| NM_001085049.3:c.-18-3644G>C MANE Select | NP_001078518.1:n.-18-3644G>C | |
| NM_001252090.2:c.-18-3644G>C | NP_001239019.1:n.-18-3644G>C | |
| NM_001252092.2:c.-36+20190G>C | NP_001239021.1:n.-36+20190G>C | |
| NM_001252093.2:c.-36+20455G>C | NP_001239022.1:n.-36+20455G>C |